Variant report

Variant	rs7753248
Chromosome Location	chr6:4403574-4403575
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:4401864..4404753-chr6:4405538..4407059,2	MCF-7	breast:
2	chr6:4398942..4400523-chr6:4402964..4405624,2	K562	blood:
3	chr6:4401256..4404324-chr6:4774451..4776953,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236336	Chromatin interaction
ENSG00000153046	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11242932	0.95[EUR][1000 genomes]
rs1330785	0.98[ASN][1000 genomes]
rs1330794	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs17138188	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17138299	0.81[EUR][1000 genomes]
rs2026186	1.00[ASN][1000 genomes]
rs4291132	0.95[EUR][1000 genomes]
rs4617033	0.81[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs4959283	0.93[ASN][1000 genomes]
rs4959954	1.00[ASN][1000 genomes]
rs4959955	1.00[ASN][1000 genomes]
rs4959956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959957	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57039012	0.95[EUR][1000 genomes]
rs59760039	1.00[ASN][1000 genomes]
rs6597056	1.00[ASN][1000 genomes]
rs6908199	0.95[EUR][1000 genomes]
rs6908758	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72847534	0.95[EUR][1000 genomes]
rs72847578	0.95[EUR][1000 genomes]
rs72848911	0.95[EUR][1000 genomes]
rs72848942	0.95[EUR][1000 genomes]
rs72848958	0.95[EUR][1000 genomes]
rs72848972	0.95[EUR][1000 genomes]
rs72848973	0.95[EUR][1000 genomes]
rs72848982	0.95[EUR][1000 genomes]
rs72848983	0.95[EUR][1000 genomes]
rs72848994	0.86[EUR][1000 genomes]
rs72848996	0.86[EUR][1000 genomes]
rs72848997	0.86[EUR][1000 genomes]
rs72848999	0.81[EUR][1000 genomes]
rs72849000	0.81[EUR][1000 genomes]
rs72850003	0.81[EUR][1000 genomes]
rs7749201	0.95[EUR][1000 genomes]
rs7752153	0.90[EUR][1000 genomes]
rs7766330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328249	0.98[ASN][1000 genomes]
rs9328250	1.00[ASN][1000 genomes]
rs9392045	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9405739	0.95[EUR][1000 genomes]
rs9502175	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600861	chr6:4238488-4469641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv462618	chr6:4238488-4472587	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv600862	chr6:4238488-4472587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv949364	chr6:4253413-4466981	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv600863	chr6:4255387-4472587	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1027498	chr6:4255640-4471635	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2763995	chr6:4255640-4474114	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020205	chr6:4255640-4474114	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv600864	chr6:4255708-4464630	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv516402	chr6:4255708-4472587	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv462619	chr6:4255708-4472587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv600865	chr6:4255708-4472587	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv462620	chr6:4255708-4481421	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv600866	chr6:4255708-4481421	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv600867	chr6:4255725-4464630	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv462621	chr6:4255725-4472587	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv600868	chr6:4255725-4472587	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1029501	chr6:4255745-4471635	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv432845	chr6:4255905-4471472	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1030655	chr6:4257190-4473701	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv538108	chr6:4257190-4473701	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1030840	chr6:4257390-4473562	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv538109	chr6:4257390-4473562	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1026890	chr6:4259075-4471635	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv1030588	chr6:4264933-4455210	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv1021257	chr6:4264933-4473384	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv538110	chr6:4264933-4473384	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv916553	chr6:4269714-4437920	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv1016621	chr6:4277411-4473384	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
30	nsv600869	chr6:4294450-4430623	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
31	nsv883413	chr6:4371622-4474114	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
32	nsv1021743	chr6:4382308-4494308	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
33	nsv538111	chr6:4382308-4494308	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
34	nsv600870	chr6:4391872-4429310	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4395600-4405800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr6:4397200-4406800	Enhancers	Fetal Muscle Leg	muscle
3	chr6:4400800-4404200	Enhancers	NHDF-Ad	bronchial
4	chr6:4400800-4404600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:4401200-4403600	Enhancers	Esophagus	oesophagus
6	chr6:4401800-4403800	Enhancers	Fetal Muscle Trunk	muscle
7	chr6:4401800-4403800	Enhancers	NHLF	lung
8	chr6:4401800-4404200	Enhancers	Osteobl	bone
9	chr6:4402000-4403600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:4402000-4404400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:4402000-4404400	Enhancers	Left Ventricle	heart
12	chr6:4402000-4404600	Enhancers	Right Ventricle	heart
13	chr6:4402000-4405000	Enhancers	HSMMtube	muscle
14	chr6:4402200-4403600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:4402200-4403600	Enhancers	Gastric	stomach
16	chr6:4402200-4403600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr6:4402200-4403800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:4402200-4404000	Enhancers	Psoas Muscle	Psoas
19	chr6:4402200-4404000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr6:4402200-4404800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:4402200-4404800	Enhancers	Brain Substantia Nigra	brain
22	chr6:4402200-4404800	Enhancers	Right Atrium	heart
23	chr6:4402400-4403600	Enhancers	Aorta	Aorta
24	chr6:4402400-4403600	Enhancers	NH-A	brain
25	chr6:4402400-4403600	Enhancers	NHEK	skin
26	chr6:4402400-4404000	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr6:4402400-4404400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:4402400-4404600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:4402400-4404800	Enhancers	Fetal Heart	heart
30	chr6:4402400-4406600	Enhancers	Brain Anterior Caudate	brain
31	chr6:4402600-4403600	Enhancers	Colon Smooth Muscle	Colon
32	chr6:4402600-4403600	Enhancers	HMEC	breast
33	chr6:4402600-4403800	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:4402600-4405000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:4402800-4405000	Enhancers	Brain Cingulate Gyrus	brain
36	chr6:4402800-4406600	Enhancers	Brain Hippocampus Middle	brain
37	chr6:4403000-4403800	Bivalent Enhancer	Fetal Stomach	stomach
38	chr6:4403000-4404600	Enhancers	Brain Angular Gyrus	brain
39	chr6:4403200-4403800	Enhancers	Stomach Smooth Muscle	stomach
40	chr6:4403200-4403800	Enhancers	A549	lung
41	chr6:4403200-4404400	Enhancers	Adipose Nuclei	Adipose
42	chr6:4403200-4404600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:4403200-4404600	Enhancers	HSMM	muscle
44	chr6:4403200-4405600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:4403200-4405600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:4403200-4405600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:4403200-4405600	Weak transcription	Colonic Mucosa	Colon
48	chr6:4403200-4405800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:4403200-4405800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:4403200-4405800	Weak transcription	Fetal Lung	lung

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