Variant report

Variant	rs531856944
Chromosome Location	chr7:100081301-100081302
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr7:100080779-100081331	GM12878	blood:	n/a	chr7:100081177-100081190 chr7:100080951-100080964 chr7:100080820-100080833 chr7:100081173-100081195 chr7:100081178-100081189 chr7:100080823-100080832 chr7:100081179-100081189 chr7:100081177-100081190 chr7:100081176-100081191 chr7:100081179-100081189 chr7:100081271-100081284 chr7:100081180-100081189 chr7:100081177-100081190 chr7:100081177-100081191 chr7:100081177-100081190
2	RAD21	chr7:100080859-100081304	GM12878	blood:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
3	ZNF143	chr7:100080340-100081314	K562	blood:	n/a	chr7:100080940-100080950 chr7:100080880-100080898 chr7:100081075-100081093 chr7:100080933-100080951
4	PAX5	chr7:100080799-100081340	GM12892	blood:	n/a	chr7:100080960-100080969
5	CTCF	chr7:100080564-100081373	MCF-7	breast:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
6	CTCF	chr7:100080648-100081355	HepG2	liver:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
7	CTCF	chr7:100080834-100081329	Fibrobl	skin:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
8	CTCF	chr7:100080827-100081343	GM10266	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
9	YY1	chr7:100080765-100081356	GM12892	blood:	n/a	chr7:100081085-100081096 chr7:100081055-100081069 chr7:100081086-100081100
10	CTCF	chr7:100080765-100081331	Spleen_OC	spleen:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
11	MYC	chr7:100080876-100081357	K562	blood:	n/a	chr7:100081185-100081194
12	RAD21	chr7:100080775-100081490	H1-hESC	embryonic stem cell:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
13	CTCF	chr7:100080830-100081322	MCF-7	breast:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
14	CTCF	chr7:100080708-100081310	A549	lung:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
15	CTCF	chr7:100080812-100081305	SK-N-SH_RA	brain:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
16	EGR1	chr7:100080647-100081859	HCT-116	colon:	n/a	chr7:100081472-100081486 chr7:100081177-100081190 chr7:100080951-100080964 chr7:100081362-100081375 chr7:100080820-100080833 chr7:100081173-100081195 chr7:100081178-100081189 chr7:100080823-100080832 chr7:100081179-100081189 chr7:100081177-100081190 chr7:100081176-100081191 chr7:100081179-100081189 chr7:100081271-100081284 chr7:100081180-100081189 chr7:100081177-100081190 chr7:100081177-100081191 chr7:100081177-100081190
17	RAD21	chr7:100080772-100081359	K562	blood:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
18	ETS1	chr7:100080663-100081337	K562	blood:	n/a	chr7:100080938-100080949
19	MAX	chr7:100080689-100081516	A549	lung:	n/a	chr7:100081185-100081194
20	CTCF	chr7:100080741-100081312	Pancreas_OC	pancreas:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
21	POLR2A	chr7:100080826-100081504	HUVEC	blood vessel:	n/a	n/a
22	ZNF143	chr7:100080795-100081317	GM12878	blood:	n/a	chr7:100080940-100080950 chr7:100080880-100080898 chr7:100081075-100081093 chr7:100080933-100080951
23	RAD21	chr7:100080834-100081324	H1-hESC	embryonic stem cell:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
24	ELF1	chr7:100080422-100081319	GM12878	blood:	n/a	chr7:100081078-100081090 chr7:100080779-100080791
25	FOXA2	chr7:100080868-100081448	A549	lung:	n/a	n/a
26	POLR2A	chr7:100081082-100081576	HepG2	liver:	n/a	n/a
27	TAF7	chr7:100080887-100081325	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:100080854-100081306	H1-hESC	embryonic stem cell:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
29	YY1	chr7:100080905-100081324	K562	blood:	n/a	chr7:100081085-100081096 chr7:100081055-100081069 chr7:100081086-100081100
30	SIN3AK20	chr7:100080823-100081321	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr7:100080785-100081356	H1-hESC	embryonic stem cell:	n/a	chr7:100081185-100081194
32	SIN3A	chr7:100080776-100081338	H1-hESC	embryonic stem cell:	n/a	chr7:100081085-100081096
33	CREB1	chr7:100080783-100081547	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr7:100080810-100081339	K562	blood:	n/a	chr7:100081185-100081194
35	TAF7	chr7:100080801-100081371	H1-hESC	embryonic stem cell:	n/a	n/a
36	NR2F2	chr7:100080409-100081361	MCF-7	breast:	n/a	chr7:100080792-100080807
37	GABPA	chr7:100080801-100081426	K562	blood:	n/a	chr7:100080956-100080965
38	CTCF	chr7:100080731-100081355	HepG2	liver:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
39	RAD21	chr7:100080768-100081339	HepG2	liver:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
40	ATF3	chr7:100080844-100081366	K562	blood:	n/a	chr7:100080958-100080967
41	CTCF	chr7:100080691-100081320	MCF-7	breast:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
42	MYC	chr7:100080934-100081357	NB4	blood:	n/a	chr7:100081185-100081194
43	ZEB1	chr7:100080524-100081301	HepG2	liver:	n/a	n/a
44	ZBTB7A	chr7:100081241-100081493	HepG2	liver:	n/a	chr7:100081275-100081284 chr7:100081329-100081337
45	ZBTB7A	chr7:100080555-100081719	ECC-1	luminal epithelium:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
46	CTCF	chr7:100080821-100081336	GM19238	blood:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100080934-100080947 chr7:100080931-100080944
47	JUN	chr7:100080414-100081490	K562	blood:	n/a	chr7:100080711-100080720
48	ETS1	chr7:100080731-100081386	K562	blood:	n/a	chr7:100080938-100080949
49	POLR2A	chr7:100080730-100081597	K562	blood:	n/a	n/a
50	SMC3	chr7:100080831-100081320	K562	blood:	n/a	chr7:100080933-100080947 chr7:100080976-100080990 chr7:100081046-100081060 chr7:100080937-100080947

No.	Distal block	Cell Line	Cell type
1	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
2	chr7:99998039..99998786-chr7:100080764..100081310,2	MCF-7	breast:
3	chr7:100080608..100081659-chr7:100449704..100450291,3	K562	blood:
4	chr7:100081136..100082722-chr7:100136276..100137942,2	K562	blood:
5	chr7:100081136..100082649-chr7:100135146..100137776,2	K562	blood:
6	chr7:100080256..100081975-chr7:100135714..100137947,2	MCF-7	breast:
7	chr7:100078512..100081448-chr7:100177451..100180424,2	MCF-7	breast:
8	chr7:100080986..100083044-chr7:100224263..100226367,2	MCF-7	breast:
9	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
10	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
11	chr7:100080596..100081585-chr7:100136654..100137320,2	K562	blood:
12	chr7:100080621..100081320-chr7:100157116..100157636,2	K562	blood:
13	chr7:100080695..100082892-chr7:100181914..100185450,4	MCF-7	breast:
14	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
15	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
16	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
17	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:
18	chr7:100080589..100081406-chr7:100142645..100143538,2	MCF-7	breast:
19	chr7:100080717..100081322-chr7:100157208..100158077,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D4	TF binding region
NYAP1	TF binding region
ENSG00000077454	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000146834	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
12	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	esv3375220	chr7:100080241-100082789	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	esv3381694	chr7:100080416-100082564	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100080200-100082000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:100080400-100081400	Flanking Active TSS	Colonic Mucosa	Colon
3	chr7:100080400-100081400	Active TSS	HSMM	muscle
4	chr7:100080400-100081600	Active TSS	Brain Germinal Matrix	brain
5	chr7:100080400-100082000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:100080400-100082000	Active TSS	Fetal Brain Female	brain
7	chr7:100080400-100082200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:100080400-100082400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr7:100080400-100082400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:100080400-100082600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:100080400-100082600	Active TSS	Fetal Kidney	kidney
12	chr7:100080400-100082800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:100080600-100081400	Active TSS	Sigmoid Colon	Sigmoid Colon
14	chr7:100080600-100081400	Active TSS	HSMMtube	muscle
15	chr7:100080600-100081600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:100080600-100081600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:100080600-100081600	Enhancers	Fetal Brain Male	brain
18	chr7:100080600-100081600	Active TSS	Left Ventricle	heart
19	chr7:100080600-100081800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr7:100080600-100081800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:100080600-100081800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:100080600-100081800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:100080600-100081800	Active TSS	Small Intestine	intestine
24	chr7:100080600-100081800	Active TSS	A549	lung
25	chr7:100080600-100082000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr7:100080600-100082200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:100080600-100082200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr7:100080600-100082400	Active TSS	NHDF-Ad	bronchial
29	chr7:100080600-100082800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:100080800-100081400	Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:100080800-100081400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:100080800-100081400	Active TSS	Duodenum Mucosa	Duodenum
33	chr7:100080800-100081400	Active TSS	Lung	lung
34	chr7:100080800-100081400	Active TSS	Pancreas	Pancrea
35	chr7:100080800-100081400	Transcr. at gene 5' and 3'	Right Atrium	heart
36	chr7:100080800-100081400	Active TSS	Hela-S3	cervix
37	chr7:100080800-100081400	Active TSS	NHEK	skin
38	chr7:100080800-100081600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:100080800-100081600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:100080800-100081600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr7:100080800-100081600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr7:100080800-100081600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:100080800-100081600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:100080800-100081600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr7:100080800-100081600	Active TSS	Fetal Intestine Large	intestine
46	chr7:100080800-100081600	Active TSS	Fetal Intestine Small	intestine
47	chr7:100080800-100081600	Active TSS	HepG2	liver
48	chr7:100080800-100081600	Active TSS	Osteobl	bone
49	chr7:100080800-100081800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:100080800-100081800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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