Variant report

Variant	rs10498666
Chromosome Location	chr6:5212945-5212946
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	chr6:5212097..5214794-chr6:5261245..5262873,2	K562	blood:

Variant related genes	Relation type
ENSG00000145982	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17139873	1.00[CEU][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17312134	0.92[YRI][hapmap]
rs2746228	0.91[YRI][hapmap]
rs4481464	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55960383	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6921061	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6921237	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6939454	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73363048	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73363050	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73363073	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363074	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363091	0.88[EUR][1000 genomes]
rs73363098	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73365003	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7754129	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7766566	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7768590	0.88[CEU][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7771066	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7772716	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers 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	12 gene(s)	inside rSNPs	diseases
8	nsv1017821	chr6:5114609-5213200	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv538114	chr6:5114609-5213200	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
11	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
12	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5176200-5239600	Weak transcription	Thymus	Thymus
2	chr6:5182000-5213600	Weak transcription	Gastric	stomach
3	chr6:5189000-5213200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:5192800-5213000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:5194000-5220800	Weak transcription	GM12878-XiMat	blood
6	chr6:5201600-5213400	Weak transcription	Fetal Brain Male	brain
7	chr6:5201800-5213400	Weak transcription	Fetal Brain Female	brain
8	chr6:5202800-5213600	Weak transcription	Dnd41	blood
9	chr6:5203800-5213400	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr6:5204400-5213000	Weak transcription	Hela-S3	cervix
11	chr6:5205600-5213000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:5205600-5213400	Weak transcription	Fetal Thymus	thymus
13	chr6:5205600-5218800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr6:5205600-5220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:5205600-5223000	Weak transcription	Right Atrium	heart
16	chr6:5206200-5214800	Weak transcription	Esophagus	oesophagus
17	chr6:5206200-5215600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr6:5206200-5215600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:5206400-5213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:5206400-5214000	Weak transcription	Spleen	Spleen
22	chr6:5206400-5219400	Weak transcription	HMEC	breast
23	chr6:5206600-5213000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:5206600-5213000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:5206600-5213200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:5206600-5213200	Weak transcription	Brain Germinal Matrix	brain
27	chr6:5206600-5213600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:5206600-5213600	Weak transcription	A549	lung
29	chr6:5206600-5213800	Weak transcription	Right Ventricle	heart
30	chr6:5206600-5214000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:5206600-5214000	Weak transcription	Lung	lung
32	chr6:5206600-5214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:5206600-5214800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr6:5206600-5215800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr6:5206600-5216200	Weak transcription	Pancreas	Pancrea
36	chr6:5206600-5240800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:5206800-5213200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:5206800-5213200	Weak transcription	Ovary	ovary
39	chr6:5206800-5213400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:5206800-5213600	Weak transcription	NHEK	skin
41	chr6:5206800-5214000	Weak transcription	HSMM	muscle
42	chr6:5206800-5214400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:5206800-5215000	Weak transcription	HUVEC	blood vessel
44	chr6:5206800-5217400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr6:5206800-5221000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:5206800-5232400	Weak transcription	Psoas Muscle	Psoas
47	chr6:5207000-5213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:5207000-5231000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:5207200-5213000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr6:5207400-5213600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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