Variant report

Variant	rs6974155
Chromosome Location	chr7:128914545-128914546
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs1000676	0.86[JPT][hapmap]
rs10248810	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10257620	0.82[EUR][1000 genomes]
rs10954226	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10954230	0.86[JPT][hapmap]
rs11763056	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11763325	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11769045	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11979476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12111832	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12112374	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12216567	0.91[ASN][1000 genomes]
rs12534372	0.86[JPT][hapmap]
rs12540568	0.86[JPT][hapmap]
rs12667132	0.86[JPT][hapmap]
rs12668958	0.93[CHD][hapmap];0.90[JPT][hapmap]
rs13226649	0.93[ASN][1000 genomes]
rs13235668	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13235749	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1473236	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1526900	0.95[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1559486	0.95[CEU][hapmap];0.80[CHB][hapmap];0.82[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap]
rs17168512	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1880854	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.98[ASN][1000 genomes]
rs2012919	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2056694	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2103232	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2141075	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2402944	0.96[ASN][1000 genomes]
rs2402945	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2566877	0.82[EUR][1000 genomes]
rs2566885	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2566886	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2694572	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2694574	0.85[CEU][hapmap];0.89[JPT][hapmap]
rs2718083	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs2718084	0.95[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2718086	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718089	0.97[ASN][1000 genomes]
rs2718093	0.98[ASN][1000 genomes]
rs2718096	0.96[ASN][1000 genomes]
rs4440569	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4728163	0.86[JPT][hapmap]
rs4728164	0.86[JPT][hapmap]
rs4731569	0.82[ASN][1000 genomes]
rs4731572	0.86[JPT][hapmap]
rs4731575	0.85[JPT][hapmap]
rs55638303	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56026912	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59659852	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60275163	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644723	0.81[CEU][hapmap]
rs6467233	0.89[ASW][hapmap];0.95[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6467235	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6467237	0.96[ASN][1000 genomes]
rs6467240	0.93[ASN][1000 genomes]
rs6467241	0.93[ASN][1000 genomes]
rs6467242	0.92[ASN][1000 genomes]
rs6467243	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66538149	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66864889	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66970518	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67520056	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67820265	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67853067	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67997229	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68076553	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68184415	0.93[ASN][1000 genomes]
rs68187585	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs692697	0.81[MEX][hapmap]
rs6942756	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6946938	0.80[ASN][1000 genomes]
rs6948252	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6949950	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6966595	0.91[CEU][hapmap];0.80[CHB][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap]
rs6967464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971917	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6980385	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73472312	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7778277	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780886	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782348	0.93[ASN][1000 genomes]
rs7788327	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.93[ASN][1000 genomes]
rs7792317	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7794622	0.93[ASN][1000 genomes]
rs7803052	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7806089	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs822038	0.91[CEU][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs822040	0.91[CEU][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs891545	0.82[CEU][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap]
rs963465	0.82[CEU][hapmap];0.86[JPT][hapmap]
rs9640854	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9641846	0.82[CEU][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap]
rs9641849	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9649530	0.82[ASN][1000 genomes]
rs9649531	0.82[ASN][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	esv3349195	chr7:128887559-128918489	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6974155	KCP	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128897400-128919400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:128898800-128919600	Weak transcription	Right Ventricle	heart
3	chr7:128900000-128925000	Weak transcription	Psoas Muscle	Psoas
4	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:128902800-128928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:128903000-128929200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:128903200-128925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:128903400-128931400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr7:128903400-128933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:128905200-128922800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:128905800-128932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:128907800-128924400	Weak transcription	Small Intestine	intestine
13	chr7:128909800-128925600	Weak transcription	Left Ventricle	heart
14	chr7:128910200-128924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:128911000-128934400	Weak transcription	Brain Angular Gyrus	brain
16	chr7:128911800-128921400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:128911800-128925000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:128911800-128930600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:128912000-128925000	Weak transcription	Brain Substantia Nigra	brain
20	chr7:128912000-128925000	Weak transcription	Ovary	ovary
21	chr7:128912000-128927000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr7:128912200-128925600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
24	chr7:128913200-128914800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:128913200-128916200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:128913200-128940800	Weak transcription	Aorta	Aorta
27	chr7:128913400-128914600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr7:128913400-128914600	ZNF genes & repeats	NHEK	skin
29	chr7:128913400-128915200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr7:128913400-128926000	Weak transcription	Fetal Thymus	thymus
31	chr7:128913600-128914600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr7:128913600-128914600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr7:128913600-128914800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:128913600-128914800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:128913800-128914600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr7:128913800-128914600	ZNF genes & repeats	Fetal Brain Female	brain
37	chr7:128913800-128914800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:128913800-128914800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:128913800-128914800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr7:128913800-128914800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:128913800-128914800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr7:128913800-128914800	ZNF genes & repeats	Fetal Brain Male	brain
43	chr7:128914000-128914600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:128914000-128914600	Strong transcription	Primary B cells from peripheral blood	blood
45	chr7:128914000-128914800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:128914000-128914800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr7:128914000-128914800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:128914000-128914800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr7:128914000-128914800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr7:128914000-128914800	Strong transcription	Fetal Intestine Large	intestine

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