Variant report

Variant	rs10085695
Chromosome Location	chr7:7464499-7464500
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	SPI1	chr7:7464161-7464586	HL-60	blood:	n/a	chr7:7464387-7464394 chr7:7464386-7464395 chr7:7464384-7464397
2	RUNX3	chr7:7464068-7464566	GM12878	blood:	n/a	n/a
3	CTCF	chr7:7463509-7465032	A549	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
4	SPI1	chr7:7464159-7464517	GM12891	blood:	n/a	chr7:7464387-7464394 chr7:7464386-7464395 chr7:7464384-7464397
5	CTCF	chr7:7463973-7464522	IMR90	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
6	RAD21	chr7:7463960-7464529	ECC-1	luminal epithelium:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
7	RAD21	chr7:7463804-7464607	HCT-116	colon:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
8	RAD21	chr7:7463991-7464527	SK-N-SH_RA	brain:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
9	RAD21	chr7:7463778-7464668	A549	lung:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
10	IRF1	chr7:7464080-7464584	K562	blood:	n/a	chr7:7464429-7464442 chr7:7464429-7464442 chr7:7464429-7464440 chr7:7464429-7464442 chr7:7464430-7464440 chr7:7464430-7464444 chr7:7464424-7464441 chr7:7464428-7464439
11	RAD21	chr7:7463835-7464532	IMR90	lung:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
12	CTCF	chr7:7463700-7464775	SK-N-SH	brain:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
13	RAD21	chr7:7463859-7464601	MCF-7	breast:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
14	RAD21	chr7:7462792-7464683	SK-N-SH	brain:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
15	FOXM1	chr7:7463972-7464614	GM12878	blood:	n/a	n/a
16	MTA3	chr7:7463794-7464643	GM12878	blood:	n/a	n/a
17	RAD21	chr7:7463824-7464546	ECC-1	luminal epithelium:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
18	RAD21	chr7:7463835-7464561	H1-hESC	embryonic stem cell:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
19	MAZ	chr7:7464046-7464547	K562	blood:	n/a	n/a
20	RAD21	chr7:7463995-7464515	Hela-S3	cervix:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
21	IRF1	chr7:7464105-7464545	K562	blood:	n/a	chr7:7464429-7464442 chr7:7464429-7464442 chr7:7464429-7464440 chr7:7464429-7464442 chr7:7464430-7464440 chr7:7464430-7464444 chr7:7464424-7464441 chr7:7464428-7464439
22	RAD21	chr7:7463848-7464514	SK-N-SH_RA	brain:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
23	RAD21	chr7:7463905-7464550	HepG2	liver:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
24	SPI1	chr7:7464213-7464515	GM12878	blood:	n/a	chr7:7464387-7464394 chr7:7464386-7464395 chr7:7464384-7464397
25	RAD21	chr7:7463757-7464689	HCT-116	colon:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
26	RAD21	chr7:7463869-7464540	HepG2	liver:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
27	SP1	chr7:7463982-7464505	A549	lung:	n/a	n/a
28	PBX3	chr7:7464033-7464576	SK-N-SH	brain:	n/a	n/a
29	CTCF	chr7:7463798-7464650	HCT-116	colon:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
30	RUNX3	chr7:7464045-7464577	GM12878	blood:	n/a	n/a
31	SMC3	chr7:7463967-7464542	GM12878	blood:	n/a	chr7:7464211-7464225
32	PBX3	chr7:7464014-7464600	SK-N-SH	brain:	n/a	n/a
33	SRF	chr7:7464366-7464512	GM12878	blood:	n/a	n/a
34	CTCF	chr7:7463975-7464517	A549	lung:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
35	CHD1	chr7:7463743-7464626	IMR90	lung:	n/a	n/a
36	RAD21	chr7:7463780-7464503	MCF-7	breast:	n/a	chr7:7464211-7464225 chr7:7464210-7464229
37	SMC3	chr7:7463335-7464701	SK-N-SH	brain:	n/a	chr7:7464211-7464225
38	CTCF	chr7:7463819-7464524	MCF-7	breast:	n/a	chr7:7464211-7464232 chr7:7464209-7464227
39	SMC3	chr7:7463948-7464532	HepG2	liver:	n/a	chr7:7464211-7464225
40	YY1	chr7:7464017-7464502	GM12878	blood:	n/a	n/a
41	SMC3	chr7:7463783-7464552	Hela-S3	cervix:	n/a	chr7:7464211-7464225
42	RAD21	chr7:7463902-7464608	A549	lung:	n/a	chr7:7464211-7464225 chr7:7464210-7464229

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7463756..7464685-chr7:7580802..7582089,8	MCF-7	breast:
2	chr7:7464180..7464696-chr7:7579103..7579829,2	MCF-7	breast:

Variant related genes	Relation type
COL28A1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085797	0.83[AMR][1000 genomes]
rs10249422	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes]
rs10250736	1.00[MEX][hapmap]
rs10253789	1.00[MEX][hapmap]
rs10254559	1.00[MEX][hapmap]
rs10265808	1.00[ASW][hapmap];0.90[LWK][hapmap];0.96[MKK][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes]
rs10267405	1.00[MEX][hapmap]
rs10280723	1.00[MEX][hapmap]
rs12333875	1.00[MEX][hapmap]
rs13438746	1.00[MEX][hapmap]
rs17167720	0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17167737	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17167927	0.90[YRI][hapmap];0.91[AFR][1000 genomes]
rs28492072	0.96[AFR][1000 genomes]
rs28636895	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs28680470	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7805479	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv887470	chr7:7310023-7655094	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv606039	chr7:7317590-7497676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv1020988	chr7:7348251-7497484	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
15	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
16	nsv1020181	chr7:7448657-7484862	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7455200-7478600	Weak transcription	Pancreas	Pancrea
2	chr7:7463600-7464600	Enhancers	Dnd41	blood
3	chr7:7463800-7464600	Flanking Active TSS	K562	blood
4	chr7:7463800-7465000	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr7:7463800-7465600	Enhancers	Stomach Mucosa	stomach
6	chr7:7464000-7464600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:7464000-7464600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:7464000-7464600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr7:7464000-7464600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr7:7464000-7464600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:7464000-7464600	Active TSS	Duodenum Mucosa	Duodenum
12	chr7:7464000-7464600	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr7:7464000-7464600	Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:7464000-7464600	Active TSS	Thymus	Thymus
15	chr7:7464000-7465000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr7:7464000-7465000	Enhancers	Gastric	stomach
17	chr7:7464000-7465000	Active TSS	Stomach Smooth Muscle	stomach
18	chr7:7464200-7464600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:7464200-7464600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:7464200-7464600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr7:7464200-7464600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:7464200-7464600	Active TSS	Primary monocytes fromperipheralblood	blood
23	chr7:7464200-7464600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr7:7464200-7464600	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr7:7464200-7464600	Active TSS	Primary T cells fromperipheralblood	blood
26	chr7:7464200-7464600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:7464200-7464600	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr7:7464200-7464600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:7464200-7464600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:7464200-7464600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:7464200-7464600	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:7464200-7464600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:7464200-7464600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:7464200-7464600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:7464200-7464600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:7464200-7464600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:7464200-7464600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:7464200-7464600	Active TSS	Aorta	Aorta
39	chr7:7464200-7464600	Active TSS	Liver	Liver
40	chr7:7464200-7464600	Active TSS	Brain Angular Gyrus	brain
41	chr7:7464200-7464600	Active TSS	Brain Anterior Caudate	brain
42	chr7:7464200-7464600	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:7464200-7464600	Active TSS	Brain Germinal Matrix	brain
44	chr7:7464200-7464600	Active TSS	Brain Hippocampus Middle	brain
45	chr7:7464200-7464600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:7464200-7464600	Active TSS	Brain Substantia Nigra	brain
47	chr7:7464200-7464600	Active TSS	Colonic Mucosa	Colon
48	chr7:7464200-7464600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:7464200-7464600	Active TSS	Esophagus	oesophagus
50	chr7:7464200-7464600	Active TSS	Fetal Intestine Large	intestine

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