Variant report

Variant	rs562107229
Chromosome Location	chr7:100290999-100291000
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	TAF1	chr7:100290935-100291275	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr7:100290865-100291684	K562	blood:	n/a	chr7:100291302-100291310 chr7:100291303-100291311
3	ELF1	chr7:100290907-100291640	GM12878	blood:	n/a	chr7:100291511-100291520 chr7:100291270-100291282 chr7:100291567-100291579
4	HEY1	chr7:100290254-100291396	K562	blood:	n/a	chr7:100291261-100291276 chr7:100291376-100291391
5	YY1	chr7:100290950-100292338	K562	blood:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
6	MAX	chr7:100290877-100292512	K562	blood:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
7	SMC3	chr7:100288186-100291400	SK-N-SH	brain:	n/a	chr7:100289216-100289230 chr7:100288446-100288456 chr7:100289506-100289516 chr7:100289447-100289457 chr7:100289447-100289461
8	UBTF	chr7:100290832-100291675	K562	blood:	n/a	n/a
9	MAZ	chr7:100290904-100292535	IMR90	lung:	n/a	chr7:100291894-100291903 chr7:100291894-100291903 chr7:100292098-100292108 chr7:100291893-100291904 chr7:100291894-100291903 chr7:100291892-100291905
10	POLR2A	chr7:100290932-100291208	H1-hESC	embryonic stem cell:	n/a	n/a
11	YY1	chr7:100290877-100292351	HepG2	liver:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
12	SMARCB1	chr7:100290961-100291489	Hela-S3	cervix:	n/a	n/a
13	YY1	chr7:100290956-100291291	GM12878	blood:	n/a	n/a
14	UBTF	chr7:100290989-100291606	K562	blood:	n/a	n/a
15	WRNIP1	chr7:100290768-100291127	GM12878	blood:	n/a	n/a
16	ZBTB7A	chr7:100290897-100291929	K562	blood:	n/a	chr7:100291302-100291310 chr7:100291303-100291311
17	POLR2A	chr7:100290941-100291271	K562	blood:	n/a	n/a
18	POLR2A	chr7:100289103-100291438	SK-N-MC	brain:	n/a	n/a
19	TAF1	chr7:100290928-100292346	K562	blood:	n/a	n/a
20	SIN3A	chr7:100290997-100291568	H1-hESC	embryonic stem cell:	n/a	chr7:100291538-100291549
21	POLR2A	chr7:100290881-100291881	K562	blood:	n/a	n/a
22	MYC	chr7:100290949-100291239	NB4	blood:	n/a	n/a
23	CTCF	chr7:100288330-100291509	SK-N-SH	brain:	n/a	chr7:100289445-100289463 chr7:100289242-100289255 chr7:100289447-100289460 chr7:100291304-100291317 chr7:100289217-100289230 chr7:100288748-100288756 chr7:100289440-100289461
24	POLR2A	chr7:100290178-100292390	K562	blood:	n/a	n/a
25	YY1	chr7:100290819-100292673	SK-N-SH	brain:	n/a	chr7:100291867-100291886 chr7:100291559-100291573 chr7:100291873-100291881 chr7:100291862-100291884 chr7:100291514-100291523
26	POLR2A	chr7:100290956-100291259	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZBTB7A	chr7:100290957-100291564	ECC-1	luminal epithelium:	n/a	chr7:100291302-100291310 chr7:100291303-100291311
28	ZNF263	chr7:100290988-100291303	HEK293-T-REx	kidney:	n/a	n/a
29	SIN3AK20	chr7:100290777-100291569	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100289314..100293442-chr7:100296051..100298941,4	MCF-7	breast:
2	chr7:100068696..100070699-chr7:100288610..100291361,2	MCF-7	breast:
3	chr7:100144116..100146517-chr7:100289943..100291876,2	K562	blood:
4	chr7:100288044..100289593-chr7:100290175..100291688,2	K562	blood:
5	chr7:100184159..100186286-chr7:100289610..100292155,2	MCF-7	breast:
6	chr7:100288321..100291208-chr7:100293573..100296644,3	K562	blood:
7	chr7:100222794..100225924-chr7:100289657..100292852,4	MCF-7	breast:
8	chr7:100182628..100184656-chr7:100289002..100291163,2	K562	blood:
9	chr7:100288992..100293891-chr7:100317292..100321001,4	MCF-7	breast:
10	chr7:100199658..100204753-chr7:100287607..100293733,10	K562	blood:
11	chr7:100289903..100293307-chr7:100301970..100305114,7	K562	blood:
12	chr7:100177845..100180104-chr7:100290366..100293709,4	MCF-7	breast:
13	chr7:100288252..100292867-chr7:100319528..100322364,4	K562	blood:
14	chr7:100199953..100202324-chr7:100288023..100291009,2	MCF-7	breast:
15	chr7:100287688..100293699-chr7:100300603..100306359,15	MCF-7	breast:
16	chr7:100031056..100033045-chr7:100289882..100292059,2	K562	blood:
17	chr6:26053433..26055851-chr7:100290372..100293044,2	MCF-7	breast:
18	chr7:100162910..100168606-chr7:100287546..100292436,6	MCF-7	breast:
19	chr7:100198433..100204411-chr7:100285757..100293733,14	K562	blood:
20	chr7:100080135..100081654-chr7:100290333..100292892,2	MCF-7	breast:
21	chr7:100254369..100255974-chr7:100290427..100292129,2	K562	blood:
22	chr7:100290049..100291654-chr7:100463321..100465099,2	MCF-7	breast:
23	chr7:100222173..100224759-chr7:100289298..100291069,2	K562	blood:
24	chr7:100239190..100240878-chr7:100289804..100292344,2	MCF-7	breast:
25	chr7:100289903..100293628-chr7:100299918..100304988,11	K562	blood:
26	chr7:100208850..100211238-chr7:100289549..100292875,4	K562	blood:
27	chr7:100290034..100292271-chr7:100471770..100473597,2	MCF-7	breast:
28	chr7:100289891..100291847-chr7:100416190..100417802,2	K562	blood:
29	chr7:100197481..100201934-chr7:100289981..100293981,6	MCF-7	breast:
30	chr7:100025861..100030068-chr7:100288797..100293203,7	K562	blood:
31	chr7:100181942..100185382-chr7:100289663..100293010,6	K562	blood:
32	chr7:100290419..100293382-chr7:100421709..100425907,4	MCF-7	breast:
33	chr7:100180869..100184882-chr7:100287482..100291355,9	MCF-7	breast:
34	chr7:100025034..100028922-chr7:100288914..100292951,6	K562	blood:
35	chr7:100207033..100212293-chr7:100287661..100294075,8	MCF-7	breast:
36	chr7:100034415..100037250-chr7:100289483..100291820,2	MCF-7	breast:
37	chr7:100247255..100249496-chr7:100290650..100293134,2	K562	blood:
38	chr7:100179120..100183907-chr7:100289595..100293366,6	MCF-7	breast:
39	chr7:100288390..100292044-chr7:100484527..100487788,3	MCF-7	breast:

Variant related genes	Relation type
GIGYF1	TF binding region
ENSG00000106336	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000077454	Chromatin interaction
ENSG00000184414	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000106333	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000106330	Chromatin interaction
ENSG00000130427	Chromatin interaction
ENSG00000224729	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000106327	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000087087	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv8184	chr7:100240737-100345945	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
10	nsv888792	chr7:100252918-100329189	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv888795	chr7:100266081-100298626	Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	31 gene(s)	inside rSNPs	diseases
12	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	esv3405374	chr7:100290641-100293189	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
14	esv3438620	chr7:100290816-100293089	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 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	chr7:100288600-100291200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr7:100288800-100291000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:100288800-100291000	Enhancers	Spleen	Spleen
4	chr7:100289200-100291000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr7:100289200-100291000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:100289200-100291200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:100289400-100291000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:100289400-100291200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr7:100289400-100291200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr7:100289400-100291400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr7:100289400-100291600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr7:100289600-100291000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:100289600-100291000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr7:100289600-100291000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:100289600-100291000	Flanking Active TSS	Fetal Brain Male	brain
16	chr7:100289600-100291000	Flanking Active TSS	Fetal Lung	lung
17	chr7:100289600-100291000	Flanking Active TSS	NH-A	brain
18	chr7:100289600-100291200	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:100289600-100291200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr7:100289600-100291200	Flanking Active TSS	Colonic Mucosa	Colon
21	chr7:100289600-100291200	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr7:100289600-100291200	Flanking Active TSS	HUVEC	blood vessel
23	chr7:100289600-100291600	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr7:100289600-100291600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:100289800-100291000	Flanking Active TSS	Colon Smooth Muscle	Colon
26	chr7:100289800-100291200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr7:100289800-100291600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr7:100289800-100293600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr7:100290000-100291000	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr7:100290000-100293800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr7:100290200-100291000	Flanking Active TSS	Psoas Muscle	Psoas
32	chr7:100290200-100291000	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:100290200-100291200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr7:100290400-100291000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:100290400-100291000	Active TSS	Right Atrium	heart
36	chr7:100290400-100291000	Flanking Active TSS	Hela-S3	cervix
37	chr7:100290400-100291200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:100290400-100291200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:100290400-100291200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr7:100290400-100291200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:100290400-100291200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr7:100290400-100291400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr7:100290400-100291400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr7:100290400-100291400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr7:100290400-100291600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:100290400-100291600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:100290400-100292600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:100290600-100291000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr7:100290600-100291000	Weak transcription	Small Intestine	intestine
50	chr7:100290600-100291200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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