Variant report

Variant	rs569030332
Chromosome Location	chr7:100080601-100080602
allele	C/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	ZNF143	chr7:100080340-100081314	K562	blood:	n/a	chr7:100080940-100080950 chr7:100080880-100080898 chr7:100081075-100081093 chr7:100080933-100080951
2	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
3	CTCF	chr7:100080500-100080650	HPAF	blood vessel:	n/a	n/a
4	RCOR1	chr7:100080427-100081192	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr7:100080600-100080750	HMF	breast:	n/a	n/a
6	ELF1	chr7:100080422-100081319	GM12878	blood:	n/a	chr7:100081078-100081090 chr7:100080779-100080791
7	HDAC2	chr7:100080288-100080653	K562	blood:	n/a	n/a
8	NR2F2	chr7:100080409-100081361	MCF-7	breast:	n/a	chr7:100080792-100080807
9	CTCF	chr7:100080400-100080690	GM12864	blood:	n/a	n/a
10	ZEB1	chr7:100080524-100081301	HepG2	liver:	n/a	n/a
11	ZBTB7A	chr7:100080555-100081719	ECC-1	luminal epithelium:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
12	JUN	chr7:100080414-100081490	K562	blood:	n/a	chr7:100080711-100080720
13	CTCF	chr7:100080500-100080650	GM12874	blood:	n/a	n/a
14	RCOR1	chr7:100080345-100081297	K562	blood:	n/a	n/a
15	NR2F2	chr7:100080312-100081374	HepG2	liver:	n/a	chr7:100080792-100080807
16	NR2F2	chr7:100080368-100081182	K562	blood:	n/a	chr7:100080792-100080807
17	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
18	CTCF	chr7:100080584-100081361	IMR90	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
19	TCF12	chr7:100080600-100081166	A549	lung:	n/a	n/a
20	TCF12	chr7:100080599-100081365	ECC-1	luminal epithelium:	n/a	n/a
21	CTCF	chr7:100080590-100081321	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
22	NR2F2	chr7:100080413-100081297	K562	blood:	n/a	chr7:100080792-100080807
23	SMARCB1	chr7:100080467-100081258	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:100080509-100081504	K562	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
25	CBX3	chr7:100080277-100081151	K562	blood:	n/a	n/a
26	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
27	ZNF143	chr7:100080410-100080635	H1-hESC	embryonic stem cell:	n/a	n/a
28	SMC3	chr7:100080427-100081474	SK-N-SH	brain:	n/a	chr7:100080933-100080947 chr7:100080976-100080990 chr7:100081046-100081060 chr7:100080937-100080947
29	ZBTB7A	chr7:100080590-100081769	ECC-1	luminal epithelium:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
30	MAX	chr7:100080317-100081757	MCF-7	breast:	n/a	chr7:100081185-100081194
31	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
32	CTCF	chr7:100080561-100081440	K562	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
33	ZBTB7A	chr7:100080480-100081690	K562	blood:	n/a	chr7:100081275-100081284 chr7:100081329-100081337 chr7:100080955-100080964
34	CTCF	chr7:100080193-100081477	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
35	RCOR1	chr7:100080439-100081224	K562	blood:	n/a	n/a
36	REST	chr7:100080492-100082112	H1-neurons	neurons:	n/a	chr7:100080925-100080938 chr7:100081121-100081134
37	CTCF	chr7:100080460-100080610	HA-sp	spinal cord:	n/a	n/a
38	POLR2A	chr7:100080532-100081494	K562	blood:	n/a	n/a
39	CHD2	chr7:100080491-100081139	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr7:100080400-100081876	IMR90	lung:	n/a	chr7:100081185-100081194
41	MAX	chr7:100080283-100081703	K562	blood:	n/a	chr7:100081185-100081194
42	MAX	chr7:100080308-100081782	HepG2	liver:	n/a	chr7:100081185-100081194

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100080586-100080636	NH-A	brain:	n/a
2	chr7:100080586-100080636	PFSK-1	brain:	n/a
3	chr7:100080586-100080636	GM06990	blood:	n/a
4	chr7:100080586-100080636	BE2_C	brain:	n/a
5	chr7:100080586-100080636	AG04449	skin:	fetal
6	chr7:100080586-100080636	HRE	kidney:	n/a
7	chr7:100080586-100080636	K562	blood:	n/a
8	chr7:100080586-100080636	U87	brain:	n/a
9	chr7:100080586-100080636	BJ	skin:	n/a
10	chr7:100080586-100080636	ovcar-3	ovarian:	n/a
11	chr7:100080586-100080636	NHBE	bronchial:	n/a
12	chr7:100080586-100080636	Hela-S3	cervix:	n/a
13	chr7:100080586-100080636	SAEC	small airway:	n/a
14	chr7:100080586-100080636	NT2-D1	testis:	n/a
15	chr7:100080586-100080636	HMEC	breast:	n/a
16	chr7:100080586-100080636	SK-N-SH	brain:	n/a
17	chr7:100080586-100080636	NB4	blood:	n/a
18	chr7:100080586-100080636	AG09319	gingival:	n/a
19	chr7:100080586-100080636	HUVEC	blood vessel:	n/a
20	chr7:100080586-100080636	AG10803	skin:	n/a
21	chr7:100080586-100080636	HepG2	liver:	n/a
22	chr7:100080586-100080636	HCT-116	colon:	n/a
23	chr7:100080586-100080636	Jurkat	blood:	n/a
24	chr7:100080586-100080636	LNCaP	prostate:	n/a
25	chr7:100080586-100080636	IMR90	lung:	fetal
26	chr7:100080586-100080636	GM19239	blood:	n/a
27	chr7:100080586-100080636	HIPEpiC	eye:	n/a
28	chr7:100080586-100080636	ECC-1	luminal epithelium:	n/a
29	chr7:100080586-100080636	SKMC	muscle:	n/a
30	chr7:100080586-100080636	AoSMC	blood vessel:	n/a
31	chr7:100080586-100080636	HCPEpiC	choroid plexus:	n/a
32	chr7:100080586-100080636	HAEpiC	amniotic membrane:	n/a
33	chr7:100080586-100080636	HEEpiC	esophagus:	n/a
34	chr7:100080586-100080636	HRCEpiC	kidney:	n/a
35	chr7:100080586-100080636	H1-hESC	embryonic stem cell:	embryo
36	chr7:100080586-100080636	SK-N-MC	brain:	n/a
37	chr7:100080586-100080636	MCF10A-Er-Src	breast:	n/a
38	chr7:100080586-100080636	HCF	heart:	n/a
39	chr7:100080586-100080636	SK-N-SH_RA	brain:	n/a
40	chr7:100080586-100080636	GM12891	blood:	n/a
41	chr7:100080586-100080636	PANC-1	pancreas:	n/a
42	chr7:100080586-100080636	HL-60	blood:	n/a
43	chr7:100080586-100080636	CMK	blood:	n/a
44	chr7:100080586-100080636	AG04450	lung:	fetal
45	chr7:100080586-100080636	Hepatocyte	liver:	n/a
46	chr7:100080586-100080636	MCF-7	breast:	n/a
47	chr7:100080586-100080636	T-47D	breast:	n/a
48	chr7:100080586-100080636	RPTEC	kidney:	n/a
49	chr7:100080586-100080636	GM12878	blood:	n/a
50	chr7:100080586-100080636	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
2	chr20:45925390..45926255-chr7:100080190..100081125,2	MCF-7	breast:
3	chr7:100080256..100081975-chr7:100135714..100137947,2	MCF-7	breast:
4	chr7:100078512..100081448-chr7:100177451..100180424,2	MCF-7	breast:
5	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
6	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
7	chr7:100032559..100034120-chr7:100079176..100081080,2	K562	blood:
8	chr7:100080596..100081585-chr7:100136654..100137320,2	K562	blood:
9	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
10	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
11	chr7:100079431..100084153-chr7:100084209..100089579,10	K562	blood:
12	chr7:100080163..100084843-chr7:100085212..100090254,7	MCF-7	breast:
13	chr7:100080589..100081406-chr7:100142645..100143538,2	MCF-7	breast:

Variant related genes	Relation type
TSC22D4	TF binding region
NYAP1	TF binding region
TSC22D4	CpG island
NYAP1	CpG island
ENSG00000146834	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000106336	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100080000-100080800	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr7:100080000-100081000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr7:100080200-100080800	Flanking Active TSS	Hela-S3	cervix
4	chr7:100080200-100080800	Flanking Active TSS	K562	blood
5	chr7:100080200-100081000	Enhancers	Fetal Lung	lung
6	chr7:100080200-100081000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:100080200-100082000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr7:100080400-100080800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:100080400-100080800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:100080400-100080800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:100080400-100080800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:100080400-100080800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:100080400-100080800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:100080400-100080800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr7:100080400-100080800	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr7:100080400-100080800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr7:100080400-100080800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr7:100080400-100080800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:100080400-100080800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr7:100080400-100080800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:100080400-100080800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:100080400-100080800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:100080400-100080800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:100080400-100080800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr7:100080400-100080800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr7:100080400-100080800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr7:100080400-100080800	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr7:100080400-100080800	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr7:100080400-100080800	Enhancers	Gastric	stomach
30	chr7:100080400-100080800	Enhancers	Lung	lung
31	chr7:100080400-100080800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr7:100080400-100080800	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr7:100080400-100080800	Flanking Active TSS	Right Atrium	heart
34	chr7:100080400-100080800	Flanking Active TSS	Stomach Mucosa	stomach
35	chr7:100080400-100080800	Flanking Active TSS	NHEK	skin
36	chr7:100080400-100080800	Flanking Active TSS	NHLF	lung
37	chr7:100080400-100080800	Flanking Active TSS	Osteobl	bone
38	chr7:100080400-100081000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:100080400-100081000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:100080400-100081000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr7:100080400-100081000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr7:100080400-100081000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr7:100080400-100081000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:100080400-100081000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr7:100080400-100081000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr7:100080400-100081000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:100080400-100081000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:100080400-100081000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:100080400-100081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:100080400-100081000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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