Variant report

Variant	rs6921237
Chromosome Location	chr6:5176049-5176050
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	chr6:5173898..5177005-chr6:5178469..5180479,3	K562	blood:
2	chr6:5122792..5124780-chr6:5175533..5177529,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10498666	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17139873	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17140092	0.83[GIH][hapmap]
rs444607	1.00[LWK][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes]
rs4481464	1.00[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55960383	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6921061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6939454	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73363048	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363050	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73363073	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73363074	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73363091	0.85[EUR][1000 genomes]
rs73363098	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73365003	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7754129	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7766566	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7768590	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7771066	1.00[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7772716	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[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	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	nsv1022336	chr6:5145194-5200687	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1018984	chr6:5145194-5200801	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
14	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
15	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

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5145400-5180800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:5153200-5178200	Weak transcription	HMEC	breast
3	chr6:5163800-5177600	Weak transcription	Aorta	Aorta
4	chr6:5163800-5189600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:5170400-5181800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:5172200-5176200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:5173000-5185400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:5173000-5190800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:5173200-5186000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:5173600-5181000	Weak transcription	NHEK	skin
11	chr6:5173800-5179800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:5174000-5176200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:5174000-5179800	Enhancers	Fetal Thymus	thymus
14	chr6:5174000-5181000	Weak transcription	Pancreas	Pancrea
15	chr6:5174600-5176200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:5174600-5176200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:5174800-5176200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:5174800-5176200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr6:5174800-5176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:5174800-5176200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:5174800-5176800	Enhancers	Primary B cells from peripheral blood	blood
22	chr6:5174800-5176800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:5174800-5176800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:5174800-5180600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:5175000-5176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:5175000-5176200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:5175000-5176200	Flanking Active TSS	GM12878-XiMat	blood
28	chr6:5175000-5176200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:5175000-5176200	Enhancers	NHLF	lung
30	chr6:5175000-5176800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr6:5175200-5176200	Enhancers	Primary hematopoietic stem cells	blood
32	chr6:5175200-5176200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr6:5175200-5176200	Enhancers	Adipose Nuclei	Adipose
34	chr6:5175200-5176200	Enhancers	Brain Anterior Caudate	brain
35	chr6:5175200-5176200	Enhancers	Thymus	Thymus
36	chr6:5175200-5176200	Enhancers	Spleen	Spleen
37	chr6:5175200-5177000	Enhancers	Primary B cells from cord blood	blood
38	chr6:5175200-5177000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr6:5175200-5179000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:5175400-5176200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:5175400-5176200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:5175400-5176200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:5175400-5176200	Enhancers	Fetal Muscle Leg	muscle
44	chr6:5175400-5176200	Enhancers	Placenta	Placenta
45	chr6:5175400-5176200	Enhancers	Left Ventricle	heart
46	chr6:5175400-5177000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:5175400-5177400	Strong transcription	HepG2	liver
48	chr6:5175400-5177800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr6:5175400-5178000	Enhancers	Primary T cells fromperipheralblood	blood
50	chr6:5175400-5178800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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