Variant report

Variant	rs11965985
Chromosome Location	chr6:118789834-118789835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118785090..118787598-chr6:118788588..118791093,3	K562	blood:
2	chr6:118785192..118787598-chr6:118787814..118790088,2	K562	blood:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10456917	0.92[ASN][1000 genomes]
rs10457330	0.90[ASN][1000 genomes]
rs10457331	0.90[ASN][1000 genomes]
rs10457335	0.92[ASN][1000 genomes]
rs10457337	0.91[ASN][1000 genomes]
rs10457338	0.92[ASN][1000 genomes]
rs10457342	0.82[ASN][1000 genomes]
rs10872167	0.91[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11153730	0.81[EUR][1000 genomes]
rs11153732	0.88[ASN][1000 genomes]
rs11153734	0.90[ASN][1000 genomes]
rs11153748	0.92[ASN][1000 genomes]
rs11153752	0.89[ASN][1000 genomes]
rs11153753	0.89[ASN][1000 genomes]
rs11153759	0.83[ASN][1000 genomes]
rs11153763	0.83[ASN][1000 genomes]
rs11153767	0.82[ASN][1000 genomes]
rs11153768	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11752626	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11752928	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11753128	0.90[ASN][1000 genomes]
rs11755121	0.90[ASN][1000 genomes]
rs11758454	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967375	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11967858	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11968176	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11968351	0.83[ASN][1000 genomes]
rs11970286	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12192682	0.87[ASN][1000 genomes]
rs12192964	0.90[ASN][1000 genomes]
rs12194555	0.91[ASN][1000 genomes]
rs12197337	0.86[ASN][1000 genomes]
rs12198461	0.85[ASN][1000 genomes]
rs12199463	0.90[ASN][1000 genomes]
rs12203006	0.83[ASN][1000 genomes]
rs12206329	0.87[ASN][1000 genomes]
rs12207209	0.90[ASN][1000 genomes]
rs12208253	0.85[ASN][1000 genomes]
rs12211576	0.87[ASN][1000 genomes]
rs12214483	0.92[ASN][1000 genomes]
rs12215793	0.81[ASN][1000 genomes]
rs12660455	0.90[ASN][1000 genomes]
rs12661338	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13191610	0.83[ASN][1000 genomes]
rs13192336	0.87[ASN][1000 genomes]
rs13192574	0.87[ASN][1000 genomes]
rs13217710	0.88[ASN][1000 genomes]
rs13219555	0.92[ASN][1000 genomes]
rs13220480	0.83[ASN][1000 genomes]
rs17226667	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17227124	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17427116	0.91[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17825393	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17825652	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078079	0.85[ASN][1000 genomes]
rs2078383	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2184402	0.85[ASN][1000 genomes]
rs2213856	0.95[ASN][1000 genomes]
rs2213857	0.94[ASN][1000 genomes]
rs2356183	0.92[ASN][1000 genomes]
rs2356492	0.94[ASN][1000 genomes]
rs2356497	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2356498	0.83[ASN][1000 genomes]
rs2883956	0.83[ASN][1000 genomes]
rs34479834	0.90[ASN][1000 genomes]
rs35029749	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35730412	0.89[ASN][1000 genomes]
rs35962656	0.83[ASN][1000 genomes]
rs3752581	0.87[ASN][1000 genomes]
rs3798420	0.92[ASN][1000 genomes]
rs3890198	0.89[ASN][1000 genomes]
rs3951042	0.90[ASN][1000 genomes]
rs3951043	0.90[ASN][1000 genomes]
rs4027880	0.90[ASN][1000 genomes]
rs4307206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945623	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4946347	0.91[ASN][1000 genomes]
rs4946350	0.83[ASN][1000 genomes]
rs55892056	0.82[AMR][1000 genomes]
rs56403768	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57813349	0.90[ASN][1000 genomes]
rs57912492	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59671368	0.83[ASN][1000 genomes]
rs6569020	0.94[ASN][1000 genomes]
rs6569024	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67832971	0.90[ASN][1000 genomes]
rs6902812	0.85[ASN][1000 genomes]
rs6906287	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6925641	0.90[ASN][1000 genomes]
rs6936178	0.90[ASN][1000 genomes]
rs6938041	0.90[ASN][1000 genomes]
rs6938226	0.90[ASN][1000 genomes]
rs72952771	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72952795	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72958930	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs72967533	0.80[EUR][1000 genomes]
rs763254	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7740645	0.85[ASN][1000 genomes]
rs7746778	0.89[ASN][1000 genomes]
rs7751467	0.83[ASN][1000 genomes]
rs7757892	0.89[ASN][1000 genomes]
rs7758614	0.83[ASN][1000 genomes]
rs7763596	0.83[ASN][1000 genomes]
rs7766375	0.82[ASN][1000 genomes]
rs7769001	0.85[ASN][1000 genomes]
rs7772214	0.93[ASN][1000 genomes]
rs7772921	0.82[ASN][1000 genomes]
rs7773274	0.85[ASN][1000 genomes]
rs973944	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases
2	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv830787	chr6:118631902-118805106	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1025403	chr6:118635123-119122551	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1025456	chr6:118669672-119058789	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1027444	chr6:118687556-119121660	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv538428	chr6:118687556-119121660	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv949321	chr6:118692304-119137658	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv432958	chr6:118692307-119010307	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
10	nsv604555	chr6:118695049-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv1034448	chr6:118698169-119016383	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv1025097	chr6:118699752-119058789	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv1020586	chr6:118711098-118900012	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv532052	chr6:118711850-119057295	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
15	nsv432959	chr6:118716318-119010307	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
16	nsv604556	chr6:118722589-119065365	Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
17	nsv432960	chr6:118723307-118826307	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
18	nsv525179	chr6:118726243-118876092	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
19	nsv1019357	chr6:118731468-118860705	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
20	nsv464027	chr6:118768150-118856822	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
21	nsv604557	chr6:118768150-118856822	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
22	nsv464029	chr6:118768150-118861263	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
23	nsv604558	chr6:118768150-118861263	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a
24	nsv949416	chr6:118772508-119033063	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
25	nsv948980	chr6:118772508-119137658	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
26	nsv604559	chr6:118786486-119113317	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
27	nsv1022865	chr6:118786586-119058789	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
28	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118774400-118808600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:118776000-118792400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:118776800-118808800	Weak transcription	Fetal Stomach	stomach
4	chr6:118777600-118790800	Weak transcription	Pancreas	Pancrea
5	chr6:118777800-118791000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:118778600-118790200	Weak transcription	Stomach Mucosa	stomach
7	chr6:118779600-118799600	Weak transcription	NHDF-Ad	bronchial
8	chr6:118779800-118797600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:118781200-118791000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:118781200-118797200	Weak transcription	Brain Substantia Nigra	brain
11	chr6:118781400-118792200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:118783400-118792000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:118783400-118792800	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr6:118783800-118790400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr6:118783800-118808600	Weak transcription	Fetal Kidney	kidney
16	chr6:118784400-118794800	Weak transcription	Aorta	Aorta
17	chr6:118784600-118790400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:118784600-118791400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr6:118784600-118791800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:118784600-118792000	Strong transcription	Fetal Thymus	thymus
21	chr6:118784600-118792600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr6:118784600-118808400	Weak transcription	Small Intestine	intestine
23	chr6:118784600-118827600	Weak transcription	Esophagus	oesophagus
24	chr6:118784800-118790000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:118784800-118791200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr6:118784800-118792000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr6:118784800-118792000	Weak transcription	Duodenum Mucosa	Duodenum
28	chr6:118784800-118792800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr6:118784800-118807000	Weak transcription	Right Ventricle	heart
30	chr6:118785000-118791200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:118785000-118792000	Strong transcription	Primary T cells from cord blood	blood
32	chr6:118785000-118793800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:118785000-118795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:118785000-118800000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:118785000-118810000	Weak transcription	Spleen	Spleen
36	chr6:118785000-118813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:118785000-118816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:118785200-118791200	Strong transcription	Dnd41	blood
39	chr6:118785200-118791400	Strong transcription	Fetal Lung	lung
40	chr6:118785200-118797600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr6:118785600-118791400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:118785800-118790800	Strong transcription	Ovary	ovary
43	chr6:118785800-118791000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr6:118785800-118791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr6:118785800-118791000	Strong transcription	Fetal Muscle Leg	muscle
46	chr6:118785800-118791400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr6:118785800-118808000	Weak transcription	Brain Germinal Matrix	brain
48	chr6:118786000-118790200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr6:118786000-118791000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:118786000-118791000	Strong transcription	Adipose Nuclei	Adipose

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