Variant report

Variant	rs818621
Chromosome Location	chr7:105173029-105173030
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:105162283..105162894-chr7:105172462..105173034,2	NB4	blood:
2	chr7:105171919..105174630-chr7:105210042..105212382,2	K562	blood:
3	chr7:104652025..104655481-chr7:105171171..105174883,4	K562	blood:
4	chr7:105171193..105173393-chr7:105516904..105519168,2	K562	blood:
5	chr7:105094953..105097499-chr7:105172737..105175685,2	K562	blood:
6	chr7:105171071..105173381-chr7:105188092..105190983,2	MCF-7	breast:
7	chr7:104653522..104655991-chr7:105172010..105174113,2	MCF-7	breast:
8	chr7:105162077..105162858-chr7:105172193..105173344,3	MCF-7	breast:
9	chr14:20937110..20938110-chr7:105172278..105173069,2	Hela-S3	cervix:
10	chr7:104652025..104655487-chr7:105171171..105176319,6	K562	blood:
11	chr7:105171534..105175507-chr7:105231963..105234533,3	K562	blood:
12	chr7:105158727..105165017-chr7:105166972..105176993,56	K562	blood:
13	chr7:105172788..105175282-chr7:105215933..105219450,4	K562	blood:
14	chr7:105171405..105173628-chr7:105221272..105223628,2	MCF-7	breast:
15	chr7:105160261..105165362-chr7:105168599..105174293,22	MCF-7	breast:
16	chr7:105160687..105164718-chr7:105170642..105174239,14	MCF-7	breast:
17	chr11:66056148..66056859-chr7:105172413..105173177,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000146776	Chromatin interaction
ENSG00000005483	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000135249	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000185055	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000091127	Chromatin interaction
ENSG00000272604	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs11556986	0.96[EUR][1000 genomes]
rs1355614	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1569134	0.93[CEU][hapmap];0.88[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs1706902	0.93[LWK][hapmap]
rs1706908	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17149454	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1721498	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1721500	0.82[EUR][1000 genomes]
rs1728645	0.94[ASW][hapmap];0.98[LWK][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1728651	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs1728653	0.90[AFR][1000 genomes]
rs1728655	0.89[LWK][hapmap];0.85[MKK][hapmap]
rs17343349	1.00[CHB][hapmap]
rs17343556	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1976969	0.94[EUR][1000 genomes]
rs2272169	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs2392749	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3892297	0.89[EUR][1000 genomes]
rs3892298	0.89[EUR][1000 genomes]
rs4074939	0.91[EUR][1000 genomes]
rs4083246	0.92[EUR][1000 genomes]
rs55691539	0.95[EUR][1000 genomes]
rs55700120	0.94[EUR][1000 genomes]
rs55740553	0.94[EUR][1000 genomes]
rs55794529	0.95[EUR][1000 genomes]
rs55825845	0.84[EUR][1000 genomes]
rs55906043	0.94[EUR][1000 genomes]
rs55922564	0.94[EUR][1000 genomes]
rs55967123	0.95[EUR][1000 genomes]
rs55983796	0.95[EUR][1000 genomes]
rs56055535	0.92[EUR][1000 genomes]
rs56165465	0.97[EUR][1000 genomes]
rs56177071	0.95[EUR][1000 genomes]
rs56230603	0.88[EUR][1000 genomes]
rs56239334	0.83[EUR][1000 genomes]
rs56251768	0.95[EUR][1000 genomes]
rs56268110	0.85[EUR][1000 genomes]
rs56379434	0.94[EUR][1000 genomes]
rs68153235	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6943132	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs6944787	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6953851	0.89[EUR][1000 genomes]
rs6955796	0.95[EUR][1000 genomes]
rs6956234	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs6956249	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs6957192	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6957424	0.95[EUR][1000 genomes]
rs6961233	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6961863	0.97[EUR][1000 genomes]
rs6969426	0.94[EUR][1000 genomes]
rs6973263	0.95[EUR][1000 genomes]
rs6973974	0.95[EUR][1000 genomes]
rs6977748	0.94[EUR][1000 genomes]
rs711430	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs711431	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73190133	0.94[EUR][1000 genomes]
rs73190149	0.94[EUR][1000 genomes]
rs73190151	0.94[EUR][1000 genomes]
rs73190155	0.94[EUR][1000 genomes]
rs73190156	0.94[EUR][1000 genomes]
rs73190158	0.94[EUR][1000 genomes]
rs73190161	0.94[EUR][1000 genomes]
rs73190163	0.94[EUR][1000 genomes]
rs73190166	0.92[EUR][1000 genomes]
rs73190167	0.94[EUR][1000 genomes]
rs73190169	0.94[EUR][1000 genomes]
rs73190172	0.95[EUR][1000 genomes]
rs73190174	0.95[EUR][1000 genomes]
rs73190175	0.83[EUR][1000 genomes]
rs73190178	0.81[EUR][1000 genomes]
rs73190179	0.92[EUR][1000 genomes]
rs73190181	0.95[EUR][1000 genomes]
rs73190183	0.95[EUR][1000 genomes]
rs73190184	0.94[EUR][1000 genomes]
rs73190186	0.95[EUR][1000 genomes]
rs73190187	0.95[EUR][1000 genomes]
rs73190189	0.95[EUR][1000 genomes]
rs73190193	0.95[EUR][1000 genomes]
rs73190200	0.95[EUR][1000 genomes]
rs73190201	0.95[EUR][1000 genomes]
rs73190202	0.95[EUR][1000 genomes]
rs73192105	0.95[EUR][1000 genomes]
rs73192107	0.95[EUR][1000 genomes]
rs73192115	0.93[EUR][1000 genomes]
rs73192120	0.95[EUR][1000 genomes]
rs73192122	0.95[EUR][1000 genomes]
rs73192124	0.95[EUR][1000 genomes]
rs73192125	0.97[EUR][1000 genomes]
rs73192126	0.95[EUR][1000 genomes]
rs73192134	0.89[EUR][1000 genomes]
rs73192141	0.87[EUR][1000 genomes]
rs73192143	0.89[EUR][1000 genomes]
rs73192144	0.85[EUR][1000 genomes]
rs73192145	0.87[EUR][1000 genomes]
rs73192149	0.84[EUR][1000 genomes]
rs73192150	0.82[EUR][1000 genomes]
rs73192151	0.82[EUR][1000 genomes]
rs73192152	0.82[EUR][1000 genomes]
rs73192153	0.82[EUR][1000 genomes]
rs7777343	0.87[EUR][1000 genomes]
rs818619	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs818620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs818626	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs818628	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9769403	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1028228	chr7:104807207-105182998	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' 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
4	nsv1015688	chr7:104849770-105182998	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1023767	chr7:104931143-105190662	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv539049	chr7:104931143-105190662	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv1022065	chr7:104997315-105190662	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv888931	chr7:105012975-105173974	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv888932	chr7:105012975-105179756	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1023564	chr7:105018484-105182998	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers 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	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs818621	IL7R	trans	lymphoblastoid	seeQTL
rs818621	LRRC17	cis	parietal	SCAN
rs818621	SMCP	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105171600-105173200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:105171800-105173200	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:105171800-105173200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:105171800-105173200	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr7:105171800-105173200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:105171800-105173200	Active TSS	Brain Angular Gyrus	brain
7	chr7:105171800-105173200	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:105171800-105173200	Active TSS	Duodenum Mucosa	Duodenum
9	chr7:105171800-105173200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr7:105171800-105173400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:105171800-105173400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:105171800-105173400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:105171800-105173400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:105171800-105173400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:105171800-105173400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:105171800-105173400	Active TSS	Colon Smooth Muscle	Colon
17	chr7:105171800-105173400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr7:105171800-105173400	Bivalent/Poised TSS	HepG2	liver
19	chr7:105171800-105173400	Active TSS	NHDF-Ad	bronchial
20	chr7:105171800-105173600	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr7:105171800-105173600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:105171800-105173600	Active TSS	Pancreas	Pancrea
23	chr7:105171800-105173600	Active TSS	A549	lung
24	chr7:105171800-105173600	Active TSS	GM12878-XiMat	blood
25	chr7:105171800-105173600	Active TSS	K562	blood
26	chr7:105171800-105173800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:105171800-105173800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr7:105172000-105173200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:105172000-105173200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr7:105172000-105173200	Active TSS	Brain Anterior Caudate	brain
31	chr7:105172000-105173200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
32	chr7:105172000-105173200	Active TSS	Psoas Muscle	Psoas
33	chr7:105172000-105173200	Active TSS	Right Ventricle	heart
34	chr7:105172000-105173200	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:105172000-105173200	Active TSS	Stomach Mucosa	stomach
36	chr7:105172000-105173200	Active TSS	HSMMtube	muscle
37	chr7:105172000-105173400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:105172000-105173400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:105172000-105173400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:105172000-105173400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:105172000-105173400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr7:105172000-105173400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:105172000-105173400	Active TSS	Esophagus	oesophagus
44	chr7:105172000-105173400	Active TSS	Fetal Kidney	kidney
45	chr7:105172000-105173400	Active TSS	Left Ventricle	heart
46	chr7:105172000-105173400	Active TSS	NH-A	brain
47	chr7:105172000-105173400	Active TSS	NHLF	lung
48	chr7:105172000-105173600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr7:105172000-105173600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:105172000-105173600	Active TSS	Aorta	Aorta

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