Variant report

Variant	rs9481814
Chromosome Location	chr6:118808741-118808742
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118807029..118809570-chr6:118811844..118815669,3	K562	blood:
2	chr6:118807810..118810020-chr6:118811825..118813344,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10081007	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10223870	1.00[EUR][1000 genomes]
rs12333080	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1319987	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs1319988	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs13437605	0.92[YRI][hapmap];0.80[AFR][1000 genomes]
rs17080292	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs17080302	0.84[YRI][hapmap];0.83[AFR][1000 genomes]
rs17080456	0.84[YRI][hapmap]
rs28605789	0.83[AFR][1000 genomes]
rs55697388	0.83[AFR][1000 genomes]
rs55899435	0.85[AFR][1000 genomes]
rs62424172	0.83[AFR][1000 genomes]
rs62424173	0.83[AFR][1000 genomes]
rs62424176	0.87[AFR][1000 genomes]
rs62424195	0.85[AFR][1000 genomes]
rs62424198	0.83[AFR][1000 genomes]
rs62424199	0.83[AFR][1000 genomes]
rs62424200	0.82[AFR][1000 genomes]
rs62424204	0.83[AFR][1000 genomes]
rs72952761	0.83[AFR][1000 genomes]
rs7356858	0.81[AFR][1000 genomes]
rs7356947	0.83[AFR][1000 genomes]
rs9320651	1.00[ASN][1000 genomes]
rs9320656	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs9320660	0.92[YRI][hapmap]
rs9481783	1.00[ASN][1000 genomes]
rs9481784	1.00[ASN][1000 genomes]
rs9481785	1.00[ASN][1000 genomes]
rs9481786	1.00[ASN][1000 genomes]
rs9481808	0.83[AFR][1000 genomes]
rs9481811	0.88[AFR][1000 genomes]
rs9481820	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9481825	0.91[YRI][hapmap]
rs9481833	0.92[YRI][hapmap]
rs9481836	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489356	1.00[ASN][1000 genomes]
rs9489357	1.00[ASN][1000 genomes]
rs9489358	1.00[ASN][1000 genomes]
rs9489361	1.00[ASN][1000 genomes]
rs9489364	1.00[ASN][1000 genomes]
rs9489367	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489381	0.80[AFR][1000 genomes]
rs9489383	0.83[AFR][1000 genomes]
rs9489399	0.83[AFR][1000 genomes]
rs9489407	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs9489409	0.92[YRI][hapmap];0.87[AFR][1000 genomes]
rs9489413	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489416	0.82[AFR][1000 genomes]
rs9489428	0.83[AFR][1000 genomes]
rs9489431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489433	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs9489436	0.92[YRI][hapmap]
rs9489442	1.00[YRI][hapmap]
rs9489444	0.91[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489447	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs9489450	0.80[AFR][1000 genomes]
rs9489452	0.91[YRI][hapmap];0.80[AFR][1000 genomes]
rs9489457	0.91[YRI][hapmap]
rs9489458	0.92[YRI][hapmap]
rs9489460	0.91[YRI][hapmap]
rs9489462	0.92[YRI][hapmap]
rs9489466	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489467	1.00[YRI][hapmap]
rs9489471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9489475	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9489482	0.92[YRI][hapmap];1.00[EUR][1000 genomes]
rs9489491	0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118776800-118808800	Weak transcription	Fetal Stomach	stomach
2	chr6:118784600-118827600	Weak transcription	Esophagus	oesophagus
3	chr6:118785000-118810000	Weak transcription	Spleen	Spleen
4	chr6:118785000-118813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr6:118785000-118816600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:118786800-118808800	Weak transcription	Lung	lung
7	chr6:118788400-118809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr6:118789000-118809400	Weak transcription	Fetal Intestine Large	intestine
9	chr6:118790200-118810600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:118790400-118816800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:118790800-118809600	Weak transcription	Liver	Liver
12	chr6:118791000-118809600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr6:118791000-118809600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr6:118791000-118816400	Weak transcription	Pancreas	Pancrea
15	chr6:118791000-118816800	Weak transcription	HUVEC	blood vessel
16	chr6:118791000-118846000	Weak transcription	Gastric	stomach
17	chr6:118795800-118808800	Weak transcription	Aorta	Aorta
18	chr6:118797800-118817000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:118798200-118809600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr6:118800600-118816200	Weak transcription	HMEC	breast
21	chr6:118800800-118809800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:118802800-118808800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:118803600-118808800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:118805000-118809400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:118806800-118810400	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:118806800-118810600	Strong transcription	Primary T cells from cord blood	blood
27	chr6:118807000-118809400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:118807000-118809800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr6:118807200-118809200	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr6:118807200-118809800	Strong transcription	Fetal Thymus	thymus
31	chr6:118807400-118808800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:118807400-118808800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:118807400-118809800	Weak transcription	Psoas Muscle	Psoas
34	chr6:118807400-118809800	Weak transcription	NHDF-Ad	bronchial
35	chr6:118807400-118812600	Strong transcription	HSMM	muscle
36	chr6:118807400-118842600	Weak transcription	NHLF	lung
37	chr6:118807800-118808800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:118807800-118808800	Strong transcription	Thymus	Thymus
39	chr6:118807800-118809600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:118808000-118808800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:118808000-118808800	Strong transcription	Fetal Muscle Leg	muscle
42	chr6:118808000-118808800	Weak transcription	K562	blood
43	chr6:118808000-118809000	Strong transcription	Brain Germinal Matrix	brain
44	chr6:118808000-118809200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr6:118808000-118809200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr6:118808000-118809400	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr6:118808000-118809400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:118808000-118809400	Strong transcription	Dnd41	blood
49	chr6:118808000-118809600	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr6:118808000-118809800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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