Variant report

Variant	rs1968126
Chromosome Location	chr7:66057004-66057005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:66054686..66058308-chr7:66092199..66095155,8	MCF-7	breast:
2	chr7:66055738..66058439-chr7:66119494..66121209,2	MCF-7	breast:
3	chr3:73159745..73160448-chr7:66056916..66057646,2	Hela-S3	cervix:
4	chr7:66055924..66057616-chr7:66118024..66120875,2	K562	blood:
5	chr7:66055516..66058509-chr7:66093670..66096346,2	MCF-7	breast:
6	chr7:66055703..66058887-chr7:66117840..66121190,6	MCF-7	breast:
7	chr7:66055866..66057599-chr7:66093523..66095048,2	K562	blood:
8	chr7:66055717..66057230-chr7:66088670..66090655,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000243335	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 19 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10107	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10265311	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10271548	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10274883	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10278014	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950043	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10950046	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10950050	0.83[EUR][1000 genomes]
rs11761542	0.86[EUR][1000 genomes]
rs11763189	0.81[EUR][1000 genomes]
rs11765791	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11772819	0.86[EUR][1000 genomes]
rs11772884	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11773628	0.81[EUR][1000 genomes]
rs12333370	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12668005	0.84[ASN][1000 genomes]
rs12673450	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698522	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12698526	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13226170	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13226966	0.86[EUR][1000 genomes]
rs13232191	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13240501	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13242290	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13308803	0.87[EUR][1000 genomes]
rs13536	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17747530	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860469	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1860472	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2013908	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2024192	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2109295	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2109297	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2420610	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2420611	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2420821	0.80[AMR][1000 genomes]
rs2659890	0.87[EUR][1000 genomes]
rs2659891	0.87[EUR][1000 genomes]
rs2659892	0.87[EUR][1000 genomes]
rs2659893	0.87[EUR][1000 genomes]
rs2659896	0.86[EUR][1000 genomes]
rs2659898	0.87[EUR][1000 genomes]
rs2659901	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2659907	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2659908	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2707824	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707837	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2707847	0.87[EUR][1000 genomes]
rs28431318	0.86[ASN][1000 genomes]
rs28480509	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617601	0.85[AMR][1000 genomes]
rs28714531	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28731376	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2901209	0.81[EUR][1000 genomes]
rs35378740	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3846973	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3857685	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3926380	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4506088	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4717315	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4718377	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4718383	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58347342	0.86[EUR][1000 genomes]
rs61348003	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6460303	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66981195	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6951302	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6951946	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6955837	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6958200	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6971059	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6973249	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6975044	0.82[EUR][1000 genomes]
rs6978178	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs721717	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7384021	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7385102	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7782587	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7793723	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7800620	0.86[EUR][1000 genomes]
rs7805152	0.85[EUR][1000 genomes]
rs7808013	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801194	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs801195	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801202	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801203	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801204	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801206	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs801208	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801209	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs801215	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs881285	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9791712	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9791713	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:19)

SNP	Gene	Cis/trans	Tissue	Source
rs1968126	GTF2IRD1P1	cis	Thyroid	GTEx
rs1968126	RP4-756H11.3	cis	Thyroid	GTEx
rs1968126	RP4-756H11.3	cis	lung	GTEx
rs1968126	GS1-124K5.4	cis	Stomach	GTEx
rs1968126	RP4-756H11.3	cis	Artery Tibial	GTEx
rs1968126	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs1968126	LINC00174	cis	Thyroid	GTEx
rs1968126	GS1-124K5.11	cis	Thyroid	GTEx
rs1968126	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1968126	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs1968126	RNU6-96P	cis	Thyroid	GTEx
rs1968126	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs1968126	GS1-124K5.4	cis	Artery Aorta	GTEx
rs1968126	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs1968126	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs1968126	RP4-756H11.3	cis	Whole Blood	GTEx
rs1968126	GS1-124K5.4	cis	Skin Sun Exposed Lower leg	GTEx
rs1968126	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs1968126	RP4-756H11.3	cis	Nerve Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66055000-66057800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:66055200-66057800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:66055200-66058000	Active TSS	HSMM	muscle
4	chr7:66055400-66057400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:66055400-66057400	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr7:66055400-66057400	Active TSS	GM12878-XiMat	blood
7	chr7:66055400-66057800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:66055400-66057800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:66055400-66058000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:66055400-66058000	Active TSS	Fetal Kidney	kidney
11	chr7:66055600-66057600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:66055600-66057600	Active TSS	Right Ventricle	heart
13	chr7:66055600-66057600	Active TSS	NHLF	lung
14	chr7:66055600-66057800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:66055600-66057800	Active TSS	Psoas Muscle	Psoas
16	chr7:66055600-66057800	Active TSS	HSMMtube	muscle
17	chr7:66055800-66057400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:66055800-66057400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:66055800-66057400	Active TSS	Muscle Satellite Cultured Cells	--
20	chr7:66055800-66057400	Active TSS	NHEK	skin
21	chr7:66055800-66057600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:66055800-66057600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:66055800-66057600	Active TSS	Brain Angular Gyrus	brain
24	chr7:66055800-66057600	Active TSS	Brain Hippocampus Middle	brain
25	chr7:66055800-66057600	Active TSS	Brain Substantia Nigra	brain
26	chr7:66055800-66057600	Active TSS	Colon Smooth Muscle	Colon
27	chr7:66055800-66057600	Active TSS	Fetal Brain Male	brain
28	chr7:66055800-66057600	Active TSS	A549	lung
29	chr7:66055800-66057600	Active TSS	Hela-S3	cervix
30	chr7:66055800-66057600	Active TSS	HMEC	breast
31	chr7:66055800-66057800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr7:66055800-66057800	Active TSS	Fetal Stomach	stomach
33	chr7:66055800-66057800	Active TSS	Rectal Smooth Muscle	rectum
34	chr7:66055800-66058000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:66055800-66058000	Active TSS	NHDF-Ad	bronchial
36	chr7:66055800-66058200	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:66055800-66058200	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr7:66055800-66058200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:66056000-66057400	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr7:66056000-66057400	Active TSS	HUVEC	blood vessel
41	chr7:66056000-66057400	Active TSS	K562	blood
42	chr7:66056000-66057400	Active TSS	Osteobl	bone
43	chr7:66056000-66057600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:66056000-66057600	Active TSS	Fetal Intestine Large	intestine
45	chr7:66056000-66057600	Active TSS	Fetal Intestine Small	intestine
46	chr7:66056000-66057600	Active TSS	Fetal Lung	lung
47	chr7:66056000-66057600	Active TSS	Right Atrium	heart
48	chr7:66056000-66057800	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr7:66056000-66057800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:66056000-66057800	Active TSS	Brain Cingulate Gyrus	brain

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