Variant report

Variant	rs7904552
Chromosome Location	chr10:94640157-94640158
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	chr10:94640120-94640270	AG09309	skin:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
2	RAD21	chr10:94640046-94640400	GM12878	blood:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
3	CTCF	chr10:94639992-94640351	T-47D	breast:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
4	CTCF	chr10:94640150-94640314	GM13977	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
5	CTCF	chr10:94640140-94640290	HPF	lung:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
6	CTCF	chr10:94640140-94640290	GM12864	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
7	CTCF	chr10:94640100-94640250	NB4	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
8	CTCF	chr10:94640007-94640276	SK-N-SH_RA	brain:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
9	CTCF	chr10:94640100-94640250	GM12864	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
10	RAD21	chr10:94639946-94640492	Hela-S3	cervix:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
11	CTCF	chr10:94640120-94640270	GM06990	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
12	RAD21	chr10:94639919-94640367	MCF-7	breast:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
13	CTCF	chr10:94639984-94640428	HCT-116	colon:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
14	CTCF	chr10:94640081-94640374	Lung_OC	lung:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
15	CTCF	chr10:94640120-94640270	HepG2	liver:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
16	CTCF	chr10:94640152-94640230	ProgFib	skin:	n/a	n/a
17	CTCF	chr10:94640080-94640230	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr10:94640100-94640390	K562	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
19	RAD21	chr10:94640042-94640364	A549	lung:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
20	CTCF	chr10:94640067-94640330	T-47D	breast:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
21	CTCF	chr10:94640120-94640270	GM12865	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
22	CTCF	chr10:94640120-94640270	MCF-7	breast:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
23	CTCF	chr10:94639742-94640595	SK-N-SH	brain:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
24	CTCF	chr10:94640080-94640230	GM12872	blood:	n/a	n/a
25	CTCF	chr10:94640140-94640290	NHDF-neo	bronchial:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
26	CTCF	chr10:94640111-94640278	A549	lung:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
27	SMC3	chr10:94639989-94640414	Hela-S3	cervix:	n/a	chr10:94640221-94640235
28	CTCF	chr10:94640060-94640210	HEK293	kidney:	n/a	n/a
29	CTCF	chr10:94640137-94640244	GM19239	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
30	CTCF	chr10:94640120-94640270	GM12868	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
31	RAD21	chr10:94640089-94640282	K562	blood:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
32	ARID3A	chr10:94640091-94640529	K562	blood:	n/a	n/a
33	CTCF	chr10:94640100-94640250	GM12871	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
34	RAD21	chr10:94639995-94640326	H1-hESC	embryonic stem cell:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
35	SMC3	chr10:94639968-94640371	HepG2	liver:	n/a	chr10:94640221-94640235
36	CTCF	chr10:94640100-94640250	GM12867	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
37	RAD21	chr10:94640019-94640425	SK-N-SH_RA	brain:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
38	CTCF	chr10:94640080-94640230	HUVEC	blood vessel:	n/a	n/a
39	RAD21	chr10:94640001-94640427	IMR90	lung:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
40	CTCF	chr10:94640099-94640259	SK-N-SH_RA	brain:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
41	RAD21	chr10:94639882-94640465	HepG2	liver:	n/a	chr10:94640220-94640233 chr10:94640223-94640232 chr10:94640217-94640236
42	CTCF	chr10:94639973-94640465	A549	lung:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
43	CTCF	chr10:94640117-94640328	Hela-S3	cervix:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
44	CTCF	chr10:94640140-94640290	Hela-S3	cervix:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
45	CTCF	chr10:94640140-94640290	GM12874	blood:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
46	CTCF	chr10:94640060-94640210	NHLF	lung:	n/a	n/a
47	CTCF	chr10:94640107-94640348	HUVEC	blood vessel:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
48	CTCF	chr10:94640120-94640270	AG04450	lung:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
49	CTCF	chr10:94640120-94640270	HMEC	breast:	n/a	chr10:94640214-94640235 chr10:94640224-94640232 chr10:94640219-94640237
50	CTCF	chr10:94640060-94640210	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94602547..94603439-chr10:94639714..94640841,5	MCF-7	breast:
2	chr10:94350251..94350770-chr10:94640073..94640678,2	MCF-7	breast:
3	chr10:94515577..94518061-chr10:94639001..94640568,2	K562	blood:
4	chr10:94582543..94583333-chr10:94639532..94640277,3	MCF-7	breast:
5	chr10:94639799..94640373-chr19:41475219..41475719,2	K562	blood:
6	chr10:94607070..94611530-chr10:94637347..94641279,5	MCF-7	breast:
7	chr10:94602628..94603467-chr10:94639636..94640258,2	K562	blood:
8	chr10:94633905..94635753-chr10:94639466..94642553,3	K562	blood:

Variant related genes	Relation type
ENSG00000225118	TF binding region
ENSG00000138190	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10509647	0.80[EUR][1000 genomes]
rs10748583	0.81[ASN][1000 genomes]
rs10882118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10882121	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs10882122	0.97[EUR][1000 genomes]
rs11187186	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11187192	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11187193	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11187197	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187262	1.00[CHB][hapmap]
rs11516919	0.83[CEU][hapmap];0.90[EUR][1000 genomes]
rs12769058	0.98[EUR][1000 genomes]
rs1339821	1.00[CHB][hapmap]
rs1409385	1.00[CHB][hapmap]
rs1409386	1.00[CHB][hapmap]
rs1964154	0.97[ASN][1000 genomes]
rs2094231	0.82[EUR][1000 genomes]
rs2422060	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2901633	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2901634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3740380	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4417182	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4508117	0.96[CEU][hapmap];0.98[EUR][1000 genomes]
rs4933244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4933748	0.95[EUR][1000 genomes]
rs4933750	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55944050	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583845	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6583847	1.00[CHB][hapmap]
rs6583850	0.84[EUR][1000 genomes]
rs6583852	0.80[EUR][1000 genomes]
rs7068012	0.82[EUR][1000 genomes]
rs7078801	0.82[EUR][1000 genomes]
rs7081789	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7081888	1.00[CHB][hapmap]
rs7087174	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs7095772	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7097943	0.97[EUR][1000 genomes]
rs7906224	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7907142	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7908179	0.92[EUR][1000 genomes]
rs7910006	0.96[CEU][hapmap];0.80[YRI][hapmap];0.97[EUR][1000 genomes]
rs7911519	0.83[EUR][1000 genomes]
rs7913949	0.95[EUR][1000 genomes]
rs7914571	0.84[CEU][hapmap]
rs7915463	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs7916038	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7919095	0.82[EUR][1000 genomes]
rs7919589	0.84[EUR][1000 genomes]
rs7922067	1.00[CHB][hapmap]
rs7923502	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041805	chr10:94624759-94699623	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv895898	chr10:94628274-94810665	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1039122	chr10:94636267-94693706	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94620000-94657600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr10:94624400-94646000	Weak transcription	Fetal Intestine Small	intestine
3	chr10:94633200-94640200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr10:94633400-94656600	Weak transcription	Primary B cells from cord blood	blood
5	chr10:94634800-94650400	Weak transcription	Psoas Muscle	Psoas
6	chr10:94636000-94641000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:94636800-94640200	Enhancers	HUVEC	blood vessel
8	chr10:94637200-94651800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:94638400-94640200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:94638400-94652000	Weak transcription	Right Atrium	heart
11	chr10:94638600-94641400	Weak transcription	K562	blood
12	chr10:94638600-94656800	Weak transcription	Primary T cells from cord blood	blood
13	chr10:94639200-94640200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:94639200-94640400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr10:94639800-94640200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:94639800-94640200	Enhancers	Brain Angular Gyrus	brain
17	chr10:94639800-94640200	Enhancers	Stomach Smooth Muscle	stomach
18	chr10:94639800-94640600	Enhancers	A549	lung
19	chr10:94639800-94641200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:94640000-94640200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr10:94640000-94640200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr10:94640000-94640200	Enhancers	Liver	Liver
23	chr10:94640000-94640200	Enhancers	Brain Anterior Caudate	brain
24	chr10:94640000-94640200	Enhancers	Brain Cingulate Gyrus	brain
25	chr10:94640000-94640200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr10:94640000-94640400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr10:94640000-94640800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr10:94640000-94640800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:94640000-94641000	Enhancers	Primary monocytes fromperipheralblood	blood

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