Variant report

Variant	rs10215517
Chromosome Location	chr7:100861475-100861476
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	CTCF	chr7:100861380-100861530	HCPEpiC	choroid plexus:	n/a	n/a
2	POLR2A	chr7:100860516-100861689	MCF-7	breast:	n/a	n/a
3	HEY1	chr7:100860495-100861687	K562	blood:	n/a	n/a
4	RELA	chr7:100860640-100861765	GM15510	blood:	n/a	n/a
5	POLR2A	chr7:100861282-100861532	A549	lung:	n/a	n/a
6	ELF1	chr7:100860065-100861977	MCF-7	breast:	n/a	chr7:100861394-100861403 chr7:100860660-100860672
7	NFIC	chr7:100860710-100861519	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr7:100860641-100861780	HepG2	liver:	n/a	n/a
9	GABPA	chr7:100861159-100861488	Hela-S3	cervix:	n/a	chr7:100861371-100861385 chr7:100861432-100861446 chr7:100861371-100861382 chr7:100861435-100861446 chr7:100861437-100861446
10	SIX5	chr7:100860993-100861621	GM12878	blood:	n/a	n/a
11	ATF2	chr7:100860976-100861725	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr7:100861211-100861500	GM12878	blood:	n/a	chr7:100861352-100861363 chr7:100861353-100861363
13	SMC3	chr7:100861259-100861561	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr7:100860558-100861656	GM19193	blood:	n/a	n/a
15	STAT3	chr7:100861271-100861512	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr7:100860512-100861719	GM18951	blood:	n/a	n/a
17	CTCF	chr7:100861420-100861570	AG10803	skin:	n/a	n/a
18	MAX	chr7:100860060-100861813	Hela-S3	cervix:	n/a	chr7:100861338-100861347 chr7:100860333-100860343
19	POLR2A	chr7:100860373-100861648	Gliobla	brain:	n/a	n/a
20	MXI1	chr7:100859501-100862549	IMR90	lung:	n/a	chr7:100861332-100861347
21	SIN3AK20	chr7:100859882-100862120	MCF-7	breast:	n/a	n/a
22	YY1	chr7:100860637-100861627	GM12891	blood:	n/a	chr7:100861301-100861323 chr7:100861312-100861321
23	ELF1	chr7:100860788-100861614	HepG2	liver:	n/a	chr7:100861394-100861403
24	POLR2A	chr7:100861212-100861844	HepG2	liver:	n/a	n/a
25	BHLHE40	chr7:100860637-100861661	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:100859817-100863220	HepG2	liver:	n/a	n/a
27	POLR2A	chr7:100861329-100861610	GM12891	blood:	n/a	n/a
28	POLR2A	chr7:100861281-100861568	GM12878	blood:	n/a	n/a
29	YY1	chr7:100860429-100861628	K562	blood:	n/a	chr7:100861301-100861323 chr7:100861312-100861321
30	YY1	chr7:100860519-100861748	SK-N-SH_RA	brain:	n/a	chr7:100861301-100861323 chr7:100861312-100861321
31	ZNF263	chr7:100860930-100861762	HEK293-T-REx	kidney:	n/a	n/a
32	MAFF	chr7:100861299-100861505	HepG2	liver:	n/a	n/a
33	EP300	chr7:100860837-100861731	A549	lung:	n/a	chr7:100861396-100861403 chr7:100861289-100861296
34	CUX1	chr7:100861129-100861552	K562	blood:	n/a	n/a
35	IRF4	chr7:100860816-100861521	GM12878	blood:	n/a	n/a
36	MXI1	chr7:100860685-100861703	K562	blood:	n/a	chr7:100861332-100861347
37	ELF1	chr7:100860292-100861898	GM12878	blood:	n/a	chr7:100861394-100861403 chr7:100860660-100860672
38	JUND	chr7:100861238-100861517	HepG2	liver:	n/a	n/a
39	GABPA	chr7:100860723-100861586	Hela-S3	cervix:	n/a	chr7:100861371-100861385 chr7:100861432-100861446 chr7:100861371-100861382 chr7:100861435-100861446 chr7:100861437-100861446
40	GTF2F1	chr7:100861331-100861520	K562	blood:	n/a	n/a
41	SIX5	chr7:100860767-100861699	A549	lung:	n/a	n/a
42	SIN3AK20	chr7:100860803-100861614	A549	lung:	n/a	n/a
43	YY1	chr7:100860458-100861844	SK-N-SH	brain:	n/a	chr7:100861301-100861323 chr7:100861312-100861321
44	GABPA	chr7:100860582-100861622	K562	blood:	n/a	chr7:100861371-100861385 chr7:100861432-100861446 chr7:100861371-100861382 chr7:100861435-100861446 chr7:100861437-100861446
45	MYC	chr7:100860524-100861708	K562	blood:	n/a	chr7:100861338-100861347
46	POLR2A	chr7:100860455-100861653	K562	blood:	n/a	n/a
47	POLR2A	chr7:100860673-100861650	IMR90	lung:	n/a	n/a
48	YY1	chr7:100861008-100861593	K562	blood:	n/a	chr7:100861301-100861323 chr7:100861312-100861321
49	EGR1	chr7:100860587-100861626	MCF-7	breast:	n/a	chr7:100861288-100861297 chr7:100861517-100861530 chr7:100861372-100861381 chr7:100861436-100861445 chr7:100861395-100861404
50	ELK4	chr7:100860871-100861688	Hela-S3	cervix:	n/a	chr7:100861287-100861298 chr7:100861395-100861404 chr7:100861288-100861297 chr7:100861395-100861403

No.	Distal block	Cell Line	Cell type
1	chr7:100859700..100862927-chr7:100863052..100866687,4	MCF-7	breast:
2	chr7:100730924..100734717-chr7:100859526..100862672,3	MCF-7	breast:
3	chr7:100859374..100863045-chr7:100885733..100890781,8	K562	blood:
4	chr7:100859934..100861544-chr7:100949902..100952091,2	K562	blood:
5	chr7:100859513..100863025-chr7:100885730..100890155,10	MCF-7	breast:
6	chr7:100858946..100862708-chr7:100892771..100897292,5	MCF-7	breast:
7	chr7:100858331..100862020-chr7:100880126..100882464,3	K562	blood:
8	chr7:100808076..100812812-chr7:100858488..100864832,8	MCF-7	breast:
9	chr7:100860572..100862632-chr7:100892717..100896862,3	K562	blood:
10	chr7:100796322..100799095-chr7:100860643..100862153,2	K562	blood:
11	chr7:100859409..100862433-chr7:100893851..100895703,4	K562	blood:
12	chr7:100858977..100861910-chr7:100881462..100883229,2	K562	blood:
13	chr7:100486477..100489401-chr7:100859928..100862607,2	MCF-7	breast:
14	chr7:100491458..100494589-chr7:100859109..100862606,4	MCF-7	breast:
15	chr7:100859877..100865511-chr7:100878168..100882490,7	MCF-7	breast:
16	chr7:100853413..100857189-chr7:100859048..100862216,5	K562	blood:
17	chr7:100796560..100798875-chr7:100861007..100862748,2	MCF-7	breast:
18	chr7:100858478..100862757-chr7:100884994..100890276,15	MCF-7	breast:
19	chr7:100853184..100857478-chr7:100859517..100863375,8	MCF-7	breast:
20	chr7:100859400..100864017-chr7:100886115..100890578,15	K562	blood:
21	chr7:100860435..100861815-chr7:100887125..100888440,6	K562	blood:
22	chr7:100807333..100809689-chr7:100860017..100862230,2	K562	blood:
23	chr7:100850699..100858131-chr7:100858977..100863722,10	K562	blood:

Variant related genes	Relation type
PLOD3	TF binding region
ZNHIT1	TF binding region
ENSG00000106397	Chromatin interaction
ENSG00000169871	Chromatin interaction
ENSG00000214253	Chromatin interaction
ENSG00000106367	Chromatin interaction
ENSG00000128564	Chromatin interaction
ENSG00000176125	Chromatin interaction
ENSG00000106400	Chromatin interaction
ENSG00000087085	Chromatin interaction
ENSG00000232445	Chromatin interaction
ENSG00000106404	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10265206	1.00[YRI][hapmap]
rs10265282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271895	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227700	1.00[AMR][1000 genomes]
rs28429010	0.86[AFR][1000 genomes]
rs56037105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56115622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134317	1.00[AMR][1000 genomes]
rs56908565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56947489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58061448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58680639	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59337995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59928515	1.00[AMR][1000 genomes]
rs73713814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	nsv1018841	chr7:100760410-100868299	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv534186	chr7:100773842-100898909	Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv607973	chr7:100782460-100873835	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv888816	chr7:100792810-100862264	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
11	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
13	nsv607975	chr7:100804140-100873835	Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
14	nsv464652	chr7:100804140-100881640	Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv607976	chr7:100804140-100881640	Enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS 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	30 gene(s)	inside rSNPs	diseases
16	nsv888817	chr7:100804140-100881640	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	nsv607977	chr7:100818846-100881640	Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
19	nsv888818	chr7:100833153-100895480	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
20	nsv888819	chr7:100833153-100920007	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
21	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active 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	37 gene(s)	inside rSNPs	diseases
22	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 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	chr7:100859200-100862200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:100859400-100862600	Active TSS	HSMM	muscle
3	chr7:100859600-100862000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:100859600-100862400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:100859600-100862400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:100859600-100862400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:100859600-100862600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:100859800-100862000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:100859800-100862000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr7:100859800-100862000	Active TSS	Right Atrium	heart
11	chr7:100859800-100862200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:100859800-100862200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:100859800-100862400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:100859800-100862400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr7:100859800-100862600	Active TSS	HSMMtube	muscle
16	chr7:100860000-100861800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:100860000-100862000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr7:100860000-100862000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:100860000-100862000	Active TSS	A549	lung
20	chr7:100860000-100862000	Active TSS	Hela-S3	cervix
21	chr7:100860000-100862000	Active TSS	Osteobl	bone
22	chr7:100860000-100862200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:100860000-100862200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:100860000-100862200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:100860000-100862200	Active TSS	Fetal Kidney	kidney
26	chr7:100860000-100862200	Active TSS	GM12878-XiMat	blood
27	chr7:100860000-100862200	Active TSS	HMEC	breast
28	chr7:100860000-100862200	Active TSS	NHDF-Ad	bronchial
29	chr7:100860000-100862400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr7:100860000-100862400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:100860000-100862400	Active TSS	Aorta	Aorta
32	chr7:100860000-100862400	Bivalent/Poised TSS	HepG2	liver
33	chr7:100860000-100862400	Active TSS	NHLF	lung
34	chr7:100860000-100862600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:100860200-100861600	Active TSS	Colon Smooth Muscle	Colon
36	chr7:100860200-100861800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:100860200-100861800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr7:100860200-100861800	Active TSS	Brain Hippocampus Middle	brain
39	chr7:100860200-100861800	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:100860200-100861800	Active TSS	Brain Substantia Nigra	brain
41	chr7:100860200-100861800	Active TSS	Fetal Brain Female	brain
42	chr7:100860200-100861800	Active TSS	Fetal Lung	lung
43	chr7:100860200-100861800	Active TSS	Left Ventricle	heart
44	chr7:100860200-100861800	Active TSS	Rectal Smooth Muscle	rectum
45	chr7:100860200-100862000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:100860200-100862000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:100860200-100862000	Active TSS	Brain Angular Gyrus	brain
48	chr7:100860200-100862000	Active TSS	Brain Anterior Caudate	brain
49	chr7:100860200-100862000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr7:100860200-100862000	Active TSS	Esophagus	oesophagus

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