Variant report

Variant	rs7140961
Chromosome Location	chr14:20795715-20795716
allele	A/G
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	chr14:20795502-20795736	GM13977	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
2	RAD21	chr14:20795486-20795785	K562	blood:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
3	RAD21	chr14:20795418-20795820	SK-N-SH_RA	brain:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
4	STAT3	chr14:20795493-20795777	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr14:20795528-20795759	MCF-7	breast:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
6	POLR2A	chr14:20794190-20797847	K562	blood:	n/a	n/a
7	SMC3	chr14:20795440-20795769	K562	blood:	n/a	chr14:20795615-20795629
8	CTCF	chr14:20795433-20795842	IMR90	lung:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
9	RAD21	chr14:20795303-20795894	HCT-116	colon:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
10	CTCF	chr14:20795350-20795797	MCF-7	breast:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
11	CTCF	chr14:20795280-20795997	HCT-116	colon:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
12	POLR2A	chr14:20795531-20795742	K562	blood:	n/a	n/a
13	CTCF	chr14:20795580-20795730	GM12873	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
14	ATF2	chr14:20795514-20795888	GM12878	blood:	n/a	n/a
15	RAD21	chr14:20795444-20795915	MCF-7	breast:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
16	CTCF	chr14:20795580-20795730	HRPEpiC	eye:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
17	CTCF	chr14:20795508-20795750	Hela-S3	cervix:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
18	CTCF	chr14:20795437-20795793	K562	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
19	GATA3	chr14:20795278-20795955	SH-SY5Y	brain:	n/a	n/a
20	RAD21	chr14:20795445-20795900	ECC-1	luminal epithelium:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
21	RAD21	chr14:20795509-20795749	K562	blood:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
22	RAD21	chr14:20795478-20795758	HepG2	liver:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
23	CTCF	chr14:20795039-20796064	A549	lung:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
24	RFX5	chr14:20795384-20795801	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:20795541-20795797	K562	blood:	n/a	n/a
26	ZNF143	chr14:20795461-20795803	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:20795583-20795745	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr14:20795566-20795777	MCF10A-Er-Src	breast:	n/a	n/a
29	RAD21	chr14:20795425-20795822	GM12878	blood:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
30	MYC	chr14:20795393-20795777	MCF10A-Er-Src	breast:	n/a	n/a
31	CTCF	chr14:20795600-20795750	GM12872	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
32	CTCF	chr14:20795408-20795836	K562	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
33	POLR2A	chr14:20795120-20798793	H1-hESC	embryonic stem cell:	n/a	n/a
34	FOS	chr14:20795501-20795776	MCF10A-Er-Src	breast:	n/a	n/a
35	CTCF	chr14:20795536-20795728	SK-N-SH_RA	brain:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
36	SMC3	chr14:20795397-20796005	Hela-S3	cervix:	n/a	chr14:20795615-20795629
37	CTCF	chr14:20795600-20795750	GM12864	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
38	RAD21	chr14:20795348-20795965	MCF-7	breast:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
39	CTCF	chr14:20795478-20795764	HUVEC	blood vessel:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
40	ZNF143	chr14:20795473-20795798	K562	blood:	n/a	n/a
41	CTCF	chr14:20795580-20795730	HVMF	connective:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
42	CTCF	chr14:20795325-20795897	MCF-7	breast:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
43	RAD21	chr14:20795448-20795807	ECC-1	luminal epithelium:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
44	MYC	chr14:20795502-20795800	MCF10A-Er-Src	breast:	n/a	n/a
45	RAD21	chr14:20795475-20795779	H1-hESC	embryonic stem cell:	n/a	chr14:20795614-20795633 chr14:20795619-20795631 chr14:20795615-20795629 chr14:20795618-20795627
46	CTCF	chr14:20795520-20795749	A549	lung:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
47	CTCF	chr14:20795580-20795730	AG04450	lung:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
48	CTCF	chr14:20795497-20795763	GM12878	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631
49	POLR2A	chr14:20794590-20796288	HepG2	liver:	n/a	n/a
50	CTCF	chr14:20795580-20795730	GM12871	blood:	n/a	chr14:20795614-20795630 chr14:20795615-20795636 chr14:20795613-20795631

No.	Distal block	Cell Line	Cell type
1	chr14:20793979..20796227-chr14:20937472..20939466,2	MCF-7	breast:
2	chr14:20795157..20796264-chr14:21077188..21078443,7	MCF-7	breast:
3	chr14:20795152..20796094-chr14:21077480..21078141,2	MCF-7	breast:
4	chr14:20793682..20797138-chr14:20936376..20939221,4	K562	blood:
5	chr14:20795331..20796107-chr14:21076979..21078534,4	K562	blood:
6	chr14:20774180..20774689-chr14:20795248..20796097,2	MCF-7	breast:
7	chr14:20795171..20799091-chr14:20799468..20802404,5	MCF-7	breast:
8	chr14:20795151..20796094-chr14:21158880..21159446,3	K562	blood:

Variant related genes	Relation type
SNORD126	TF binding region
ENSG00000222489	TF binding region
ENSG00000173464	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000259060	Chromatin interaction
ENSG00000100814	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1713411	0.92[CHB][hapmap]
rs1713432	0.92[CHB][hapmap]
rs17242578	0.92[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs17308324	0.99[ASN][1000 genomes]
rs1760914	0.92[CHB][hapmap];0.87[GIH][hapmap]
rs1760920	0.92[CHB][hapmap]
rs1760921	0.92[CHB][hapmap]
rs1953550	0.84[TSI][hapmap]
rs28436279	0.89[ASN][1000 genomes]
rs3093926	0.83[TSI][hapmap]
rs3784243	0.91[ASN][1000 genomes]
rs56960933	0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs61995535	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575166	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6575167	0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7149338	0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7153417	0.92[ASW][hapmap];0.92[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs8009806	0.84[ASN][1000 genomes]
rs878156	0.92[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
7	nsv1042025	chr14:20787961-20817851	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20774200-20800400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr14:20774200-20800400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr14:20774200-20800400	Weak transcription	Fetal Brain Male	brain
4	chr14:20774200-20800400	Weak transcription	Stomach Mucosa	stomach
5	chr14:20774200-20800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:20774200-20800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr14:20774200-20800800	Weak transcription	Small Intestine	intestine
8	chr14:20778800-20798600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:20779400-20797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:20779400-20797200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:20779400-20797800	Strong transcription	H1 Cell Line	embryonic stem cell
12	chr14:20779400-20798000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr14:20779400-20799000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:20779600-20798200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:20781800-20798600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:20782000-20796800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:20782600-20800800	Weak transcription	Esophagus	oesophagus
18	chr14:20784800-20799200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:20785800-20800400	Weak transcription	Brain Hippocampus Middle	brain
20	chr14:20786200-20799000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:20786200-20800600	Weak transcription	Aorta	Aorta
22	chr14:20786200-20800600	Weak transcription	Colonic Mucosa	Colon
23	chr14:20786400-20800800	Weak transcription	Pancreas	Pancrea
24	chr14:20787400-20796800	Weak transcription	Ovary	ovary
25	chr14:20787400-20798800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr14:20787400-20800800	Weak transcription	Gastric	stomach
27	chr14:20787600-20800400	Weak transcription	Brain Germinal Matrix	brain
28	chr14:20790000-20800800	Weak transcription	Spleen	Spleen
29	chr14:20790600-20800800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:20793000-20800600	Weak transcription	Primary T cells from cord blood	blood
31	chr14:20793200-20796000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr14:20793200-20796000	Weak transcription	Right Ventricle	heart
33	chr14:20793200-20799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:20793200-20799600	Weak transcription	Brain Anterior Caudate	brain
35	chr14:20793200-20800200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:20793200-20800600	Weak transcription	Thymus	Thymus
37	chr14:20793200-20800800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:20793400-20800400	Weak transcription	Fetal Intestine Small	intestine
39	chr14:20793400-20800400	Weak transcription	Fetal Stomach	stomach
40	chr14:20793800-20800400	Weak transcription	Psoas Muscle	Psoas
41	chr14:20793800-20800600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:20793800-20800600	Weak transcription	Fetal Muscle Leg	muscle
43	chr14:20793800-20800600	Weak transcription	Lung	lung
44	chr14:20793800-20800600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr14:20793800-20800800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:20794000-20796800	Weak transcription	Left Ventricle	heart
47	chr14:20794200-20796800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:20794600-20796000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr14:20794800-20796400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:20794800-20796800	Weak transcription	H9 Cell Line	embryonic stem cell

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