Variant report

Variant	rs62445057
Chromosome Location	chr7:38407909-38407910
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	chr7:38407774-38408100	MCF-7	breast:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
2	CTCF	chr7:38407840-38407990	GM12874	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
3	RCOR1	chr7:38407766-38408130	K562	blood:	n/a	n/a
4	ZMIZ1	chr7:38407892-38407952	K562	blood:	n/a	n/a
5	CTCF	chr7:38407900-38408050	GM12872	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
6	CTCF	chr7:38407900-38408050	HUVEC	blood vessel:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
7	PML	chr7:38407724-38408170	GM12878	blood:	n/a	n/a
8	SMC3	chr7:38407795-38408081	K562	blood:	n/a	chr7:38407917-38407931
9	CTCF	chr7:38407840-38407990	HRPEpiC	eye:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
10	CTCF	chr7:38407769-38408401	HCT-116	colon:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
11	RAD21	chr7:38407818-38408048	A549	lung:	n/a	chr7:38407919-38407928 chr7:38407913-38407932
12	RAD21	chr7:38407826-38408154	A549	lung:	n/a	chr7:38407919-38407928 chr7:38407913-38407932 chr7:38408113-38408127
13	CTCF	chr7:38407880-38408030	NHDF-neo	bronchial:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
14	ELF1	chr7:38407645-38407973	K562	blood:	n/a	n/a
15	CTCF	chr7:38407860-38408010	HPAF	blood vessel:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
16	FOXP2	chr7:38407776-38407996	SK-N-MC	brain:	n/a	n/a
17	CTCF	chr7:38407792-38408022	SK-N-SH_RA	brain:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
18	CTCF	chr7:38407557-38408286	A549	lung:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
19	CTCF	chr7:38407763-38408123	MCF-7	breast:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
20	CTCF	chr7:38407880-38408030	NHEK	skin:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
21	ZNF143	chr7:38407757-38408037	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:38407860-38408010	NHLF	lung:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
23	CTCF	chr7:38407763-38408103	Fibrobl	skin:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
24	CTCF	chr7:38407860-38408010	GM12866	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
25	CTCF	chr7:38407685-38408085	ECC-1	luminal epithelium:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
26	CTCF	chr7:38407860-38408010	GM12873	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
27	YY1	chr7:38407756-38408010	GM12878	blood:	n/a	n/a
28	CTCF	chr7:38407776-38408092	MCF-7	breast:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
29	CTCF	chr7:38407751-38408086	GM12878	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
30	CTCF	chr7:38407771-38408060	LNCaP	prostate:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
31	BHLHE40	chr7:38407780-38408107	K562	blood:	n/a	n/a
32	MAZ	chr7:38407857-38408010	GM12878	blood:	n/a	n/a
33	CTCF	chr7:38407880-38408030	HRPEpiC	eye:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
34	CTCF	chr7:38407860-38408010	GM12801	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
35	CTCF	chr7:38407860-38408010	HCFaa	heart:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
36	NFYA	chr7:38407802-38408008	Hela-S3	cervix:	n/a	n/a
37	POU2F2	chr7:38407485-38408107	GM12878	blood:	n/a	n/a
38	POLR2A	chr7:38407393-38408134	GM12892	blood:	n/a	n/a
39	CTCF	chr7:38407765-38408116	GM19240	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
40	MAZ	chr7:38407798-38408098	K562	blood:	n/a	n/a
41	CTCF	chr7:38407840-38407990	AG10803	skin:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
42	CTCF	chr7:38407636-38408122	A549	lung:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
43	CTCF	chr7:38407860-38408010	GM12871	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
44	SP1	chr7:38407561-38408133	GM12878	blood:	n/a	n/a
45	RAD21	chr7:38407656-38408347	SK-N-SH	brain:	n/a	chr7:38407919-38407928 chr7:38407913-38407932 chr7:38408113-38408127
46	CTCF	chr7:38407772-38408057	GM10266	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
47	ZKSCAN1	chr7:38407879-38407958	Hela-S3	cervix:	n/a	n/a
48	ZNF143	chr7:38407719-38408128	GM12878	blood:	n/a	n/a
49	CTCF	chr7:38407860-38408010	GM12872	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933
50	CTCF	chr7:38407840-38407990	GM06990	blood:	n/a	chr7:38407910-38407931 chr7:38407916-38407932 chr7:38407915-38407933

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38385094..38385817-chr7:38407469..38408173,2	MCF-7	breast:

Variant related genes	Relation type
TRGV2	TF binding region
TRGV1	TF binding region
ENSG00000228668	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12532845	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17412722	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2002761	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2736944	0.84[ASN][1000 genomes]
rs2736945	0.83[ASN][1000 genomes]
rs3815509	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4373430	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60306481	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62445005	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62445014	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62445059	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62446763	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7797502	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription 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	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1027803	chr7:38257707-38410660	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv538820	chr7:38257707-38410660	Enhancers Weak transcription Active TSS Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
9	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
10	nsv820039	chr7:38289515-38411222	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv2757222	chr7:38294079-38418165	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv519863	chr7:38318590-38417556	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	30 gene(s)	inside rSNPs	diseases
13	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
14	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
17	nsv1016350	chr7:38378718-38418165	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	esv1850821	chr7:38378932-38411586	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	esv1847734	chr7:38379798-38408244	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	esv1801754	chr7:38383309-38411786	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	esv1801707	chr7:38383509-38411586	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv1020630	chr7:38384841-38415389	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
23	nsv1021462	chr7:38384841-38418165	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
24	nsv1032769	chr7:38384841-38418465	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	esv1849113	chr7:38387508-38411786	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv1034617	chr7:38391353-38415389	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs62445057	TRGV5P	cis	lung	GTEx
rs62445057	TRGV5	cis	lung	GTEx
rs62445057	TRGV5	cis	Whole Blood	GTEx
rs62445057	TRGV5P	cis	Whole Blood	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38381400-38408000	Weak transcription	Right Atrium	heart
2	chr7:38389600-38413800	Weak transcription	K562	blood
3	chr7:38398600-38414600	Weak transcription	Placenta	Placenta
4	chr7:38402800-38408000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:38404400-38410800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr7:38406200-38410200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:38406200-38410600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr7:38406200-38410800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:38406400-38408200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:38406400-38408600	Enhancers	Duodenum Mucosa	Duodenum
11	chr7:38406400-38408600	Enhancers	Fetal Intestine Large	intestine
12	chr7:38406400-38409800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr7:38406400-38410200	Enhancers	Primary hematopoietic stem cells	blood
14	chr7:38406600-38410200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr7:38406800-38408000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr7:38406800-38408200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr7:38406800-38408200	Enhancers	Fetal Intestine Small	intestine
18	chr7:38406800-38408600	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:38407000-38412800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:38407200-38408200	Enhancers	Adipose Nuclei	Adipose
21	chr7:38407200-38408600	Enhancers	Primary B cells from cord blood	blood
22	chr7:38407200-38409200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr7:38407200-38409400	Weak transcription	Fetal Muscle Leg	muscle
24	chr7:38407200-38411600	Genic enhancers	Primary T cells fromperipheralblood	blood
25	chr7:38407400-38408000	Enhancers	Fetal Thymus	thymus
26	chr7:38407400-38408200	Enhancers	Spleen	Spleen
27	chr7:38407400-38408600	Enhancers	Thymus	Thymus
28	chr7:38407400-38409200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:38407400-38409200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:38407400-38409200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:38407400-38409400	Weak transcription	HSMMtube	muscle
32	chr7:38407400-38409600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:38407400-38410000	Enhancers	GM12878-XiMat	blood
34	chr7:38407400-38410600	Enhancers	Primary T cells from cord blood	blood
35	chr7:38407600-38408000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:38407600-38408200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr7:38407600-38408200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:38407600-38409200	Weak transcription	HSMM	muscle
39	chr7:38407600-38409200	Weak transcription	Osteobl	bone
40	chr7:38407600-38410200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:38407600-38410400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr7:38407600-38410400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:38407600-38410600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr7:38407600-38412200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr7:38407800-38408200	Enhancers	Pancreas	Pancrea
46	chr7:38407800-38408200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:38407800-38409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:38407800-38409400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:38407800-38410000	Genic enhancers	Dnd41	blood

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