Variant report

Variant	rs582911
Chromosome Location	chr7:4184255-4184256
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:4182013..4185775-chr7:4188001..4190966,4	K562	blood:
2	chr7:4182760..4185775-chr7:4188001..4190966,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1636412	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17134410	0.93[ASN][1000 genomes]
rs56282774	0.93[ASN][1000 genomes]
rs56747705	0.81[ASN][1000 genomes]
rs57463470	0.93[ASN][1000 genomes]
rs58004474	0.93[ASN][1000 genomes]
rs583904	0.88[ASN][1000 genomes]
rs58437368	0.93[ASN][1000 genomes]
rs585701	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58980976	0.93[ASN][1000 genomes]
rs592547	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59401494	0.93[ASN][1000 genomes]
rs611712	0.81[ASN][1000 genomes]
rs657717	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs663911	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs666562	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs679546	0.90[ASN][1000 genomes]
rs681404	0.90[ASN][1000 genomes]
rs685682	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6965907	0.93[ASN][1000 genomes]
rs73671584	0.93[ASN][1000 genomes]
rs73671587	0.93[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	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv464274	chr7:3955516-4613607	Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv464275	chr7:3955516-4613607	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv464276	chr7:3955516-4613607	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv464277	chr7:3955516-4613607	Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv464278	chr7:3955516-4613607	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv605939	chr7:3955516-4613607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1019305	chr7:3991646-4276004	Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1033687	chr7:4006020-4267871	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv538688	chr7:4006020-4267871	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv917252	chr7:4017819-4374090	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
15	nsv527624	chr7:4027536-4424054	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv869540	chr7:4063875-4302040	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv1016507	chr7:4105420-4255439	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv538691	chr7:4105420-4255439	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv2755976	chr7:4116507-4207997	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv518299	chr7:4116665-4286597	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	nsv538692	chr7:4139994-4265562	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv887339	chr7:4161793-4223652	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	nsv949581	chr7:4166659-4485938	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
24	nsv887340	chr7:4167991-4263659	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1820543	chr7:4167991-4286597	Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv887341	chr7:4167991-4298625	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	nsv433015	chr7:4173613-4229445	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	nsv887342	chr7:4182850-4293524	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4154600-4191600	Weak transcription	Gastric	stomach
2	chr7:4165600-4185800	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr7:4169200-4228200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4175800-4190000	Weak transcription	HepG2	liver
5	chr7:4176600-4185200	Weak transcription	Aorta	Aorta
6	chr7:4176600-4185200	Weak transcription	Pancreas	Pancrea
7	chr7:4182200-4184600	Weak transcription	Right Ventricle	heart
8	chr7:4182400-4185400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:4182600-4185200	Enhancers	H1 Cell Line	embryonic stem cell
10	chr7:4182800-4185400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:4182800-4185600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:4183000-4185200	Enhancers	Spleen	Spleen
13	chr7:4183400-4184400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:4183400-4184800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:4183400-4185000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:4183400-4185200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:4183400-4185200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr7:4183400-4185400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:4183400-4185400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:4183600-4184800	Enhancers	Fetal Lung	lung
21	chr7:4183600-4185400	Enhancers	Fetal Brain Male	brain
22	chr7:4183800-4184600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:4183800-4185000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr7:4184000-4184400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr7:4184000-4184400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
26	chr7:4184000-4184400	Enhancers	Lung	lung
27	chr7:4184000-4184800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
28	chr7:4184000-4185000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:4184000-4185000	Bivalent Enhancer	Placenta	Placenta
30	chr7:4184000-4185200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:4184000-4185200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:4184200-4184400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:4184200-4184400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:4184200-4184400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr7:4184200-4184400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr7:4184200-4184400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:4184200-4184400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:4184200-4184400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:4184200-4184400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
40	chr7:4184200-4184400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
41	chr7:4184200-4184400	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr7:4184200-4184400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr7:4184200-4184400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr7:4184200-4184400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:4184200-4184400	Active TSS	HSMM	muscle
46	chr7:4184200-4184600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:4184200-4184600	Active TSS	H9 Cell Line	embryonic stem cell
48	chr7:4184200-4184600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr7:4184200-4184600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr7:4184200-4184600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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