Variant report

Variant	rs560946149
Chromosome Location	chr7:100081619-100081620
allele	A/G
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	HDAC2	chr7:100081495-100081735	K562	blood:	n/a	n/a
2	RAD21	chr7:100081438-100081788	SK-N-SH_RA	brain:	n/a	n/a
3	MAZ	chr7:100081542-100081687	Hela-S3	cervix:	n/a	n/a
4	SIN3A	chr7:100081578-100081906	H1-hESC	embryonic stem cell:	n/a	n/a
5	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
6	ZBTB7A	chr7:100080555-100081719	ECC-1	luminal epithelium:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
7	POLR2A	chr7:100081541-100081671	Hela-S3	cervix:	n/a	n/a
8	CREB1	chr7:100081434-100081796	A549	lung:	n/a	n/a
9	MAX	chr7:100080760-100081690	SK-N-SH	brain:	n/a	chr7:100081185-100081194
10	RAD21	chr7:100080414-100082796	SK-N-SH	brain:	n/a	chr7:100081042-100081061 chr7:100080972-100080991 chr7:100080936-100080945 chr7:100081192-100081206 chr7:100080937-100080947 chr7:100081043-100081057
11	MAZ	chr7:100080705-100081745	K562	blood:	n/a	chr7:100081185-100081194
12	EGR1	chr7:100080603-100081695	MCF-7	breast:	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
13	POLR2A	chr7:100080652-100081725	HCT-116	colon:	n/a	n/a
14	CTCF	chr7:100080493-100081743	HCT-116	colon:	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	EGR1	chr7:100080689-100081640	K562	blood:	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
16	POLR2A	chr7:100080789-100081689	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr7:100080754-100081779	HCT-116	colon:	n/a	n/a
18	ZBTB7A	chr7:100080590-100081769	ECC-1	luminal epithelium:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
19	MAX	chr7:100080317-100081757	MCF-7	breast:	n/a	chr7:100081185-100081194
20	IRF1	chr7:100080874-100081677	K562	blood:	n/a	chr7:100080955-100080969
21	POLR2A	chr7:100080833-100081931	H1-neurons	neurons:	n/a	n/a
22	ZNF263	chr7:100081543-100081754	HEK293-T-REx	kidney:	n/a	chr7:100081673-100081694 chr7:100081562-100081571
23	CTCF	chr7:100081540-100081690	GM12873	blood:	n/a	n/a
24	CTCF	chr7:100080167-100082239	SK-N-SH	brain:	n/a	chr7:100080980-100080989 chr7:100081046-100081059 chr7:100080936-100080946 chr7:100081963-100081972 chr7:100080974-100080992 chr7:100081050-100081059 chr7:100081044-100081062 chr7:100081045-100081061 chr7:100080977-100080987 chr7:100082002-100082012 chr7:100080934-100080947 chr7:100080931-100080944
25	POLR2A	chr7:100081260-100081794	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:100080772-100081964	H1-neurons	neurons:	n/a	n/a
27	ZBTB7A	chr7:100080480-100081690	K562	blood:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
28	RCOR1	chr7:100081527-100081740	K562	blood:	n/a	n/a
29	YY1	chr7:100081494-100081627	K562	blood:	n/a	chr7:100081578-100081592
30	REST	chr7:100080492-100082112	H1-neurons	neurons:	n/a	chr7:100080925-100080938 chr7:100081121-100081134
31	EGR1	chr7:100080604-100081669	K562	blood:	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
32	MAZ	chr7:100080400-100081876	IMR90	lung:	n/a	chr7:100081185-100081194
33	YY1	chr7:100081443-100081663	HCT-116	colon:	n/a	chr7:100081578-100081592
34	POLR2A	chr7:100080627-100081733	A549	lung:	n/a	n/a
35	MAX	chr7:100080283-100081703	K562	blood:	n/a	chr7:100081185-100081194
36	HMGN3	chr7:100080652-100081706	K562	blood:	n/a	n/a
37	MAX	chr7:100080308-100081782	HepG2	liver:	n/a	chr7:100081185-100081194
38	MAZ	chr7:100081504-100081623	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
2	chr7:100080608..100081659-chr7:100449704..100450291,3	K562	blood:
3	chr7:100081136..100082722-chr7:100136276..100137942,2	K562	blood:
4	chr7:100081136..100082649-chr7:100135146..100137776,2	K562	blood:
5	chr7:100080256..100081975-chr7:100135714..100137947,2	MCF-7	breast:
6	chr7:100048219..100049829-chr7:100081555..100083506,2	K562	blood:
7	chr7:100081567..100083777-chr7:100163573..100165544,2	K562	blood:
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	chr7:100080695..100082892-chr7:100181914..100185450,4	MCF-7	breast:
12	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
13	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
14	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
15	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:

Variant related genes	Relation type
TSC22D4	TF binding region
NYAP1	TF binding region
ENSG00000266372	TF binding region
ENSG00000236305	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000106336	Chromatin interaction
ENSG00000106327	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:116 , 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	chr7:100080400-100082000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:100080400-100082000	Active TSS	Fetal Brain Female	brain
4	chr7:100080400-100082200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:100080400-100082400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100080400-100082400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:100080400-100082600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:100080400-100082600	Active TSS	Fetal Kidney	kidney
9	chr7:100080400-100082800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100080600-100081800	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:100080600-100081800	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr7:100080600-100081800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:100080600-100081800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:100080600-100081800	Active TSS	Small Intestine	intestine
15	chr7:100080600-100081800	Active TSS	A549	lung
16	chr7:100080600-100082000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr7:100080600-100082200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:100080600-100082200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:100080600-100082400	Active TSS	NHDF-Ad	bronchial
20	chr7:100080600-100082800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:100080800-100081800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:100080800-100081800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:100080800-100081800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:100080800-100081800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:100080800-100081800	Active TSS	Aorta	Aorta
26	chr7:100080800-100081800	Active TSS	Colon Smooth Muscle	Colon
27	chr7:100080800-100081800	Active TSS	Gastric	stomach
28	chr7:100080800-100081800	Active TSS	Ovary	ovary
29	chr7:100080800-100081800	Active TSS	Psoas Muscle	Psoas
30	chr7:100080800-100081800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr7:100080800-100081800	Active TSS	Rectal Smooth Muscle	rectum
32	chr7:100080800-100081800	Active TSS	K562	blood
33	chr7:100080800-100081800	Active TSS	NHLF	lung
34	chr7:100080800-100082000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr7:100080800-100082000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:100080800-100082000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:100080800-100082000	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr7:100080800-100082400	Active TSS	Brain Angular Gyrus	brain
39	chr7:100080800-100082600	Active TSS	Brain Substantia Nigra	brain
40	chr7:100080800-100082600	Active TSS	Esophagus	oesophagus
41	chr7:100080800-100083000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:100080800-100083200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:100081000-100081800	Enhancers	Primary B cells from cord blood	blood
44	chr7:100081000-100081800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:100081000-100081800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:100081000-100081800	Active TSS	Placenta Amnion	Placenta Amnion
47	chr7:100081000-100081800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:100081000-100081800	Active TSS	Thymus	Thymus
49	chr7:100081000-100081800	Active TSS	HMEC	breast
50	chr7:100081000-100081800	Active TSS	HUVEC	blood vessel

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