Variant report

Variant	rs7679506
Chromosome Location	chr4:186664542-186664543
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186663357..186665698-chr4:186670283..186673079,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10009306	0.86[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];0.88[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10019017	0.89[AFR][1000 genomes]
rs10024359	0.83[CHB][hapmap]
rs11132344	0.86[JPT][hapmap]
rs11934195	0.86[ASW][hapmap];1.00[LWK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes]
rs12503317	0.86[JPT][hapmap]
rs2173480	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28625751	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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
7	nsv1023412	chr4:186613289-186707428	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv537421	chr4:186613289-186707428	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186655200-186701400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:186655800-186667600	Weak transcription	Fetal Intestine Small	intestine
3	chr4:186656200-186676200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:186659600-186667200	Enhancers	Liver	Liver
5	chr4:186660200-186670200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:186660400-186664600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr4:186660400-186678000	Weak transcription	HSMMtube	muscle
8	chr4:186660600-186668400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:186660800-186676000	Weak transcription	HUVEC	blood vessel
10	chr4:186661200-186664800	Enhancers	Pancreas	Pancrea
11	chr4:186661400-186694600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:186661600-186668600	Weak transcription	Fetal Brain Female	brain
13	chr4:186661600-186672400	Weak transcription	Fetal Kidney	kidney
14	chr4:186661800-186666400	Enhancers	HepG2	liver
15	chr4:186662000-186666200	Weak transcription	Spleen	Spleen
16	chr4:186662000-186668000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr4:186662200-186666000	Weak transcription	Right Atrium	heart
18	chr4:186662200-186668800	Weak transcription	Fetal Brain Male	brain
19	chr4:186662200-186669600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr4:186662200-186674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:186662200-186675800	Weak transcription	Lung	lung
22	chr4:186662200-186688800	Weak transcription	Aorta	Aorta
23	chr4:186662400-186666200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:186662400-186667000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:186663000-186664600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:186663000-186665400	Enhancers	Right Ventricle	heart
27	chr4:186663200-186664600	Enhancers	Osteobl	bone
28	chr4:186663200-186664800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr4:186663200-186664800	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr4:186663200-186665000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:186663400-186666000	Genic enhancers	Fetal Heart	heart
32	chr4:186663600-186664600	Enhancers	Left Ventricle	heart
33	chr4:186663600-186664800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:186663800-186664600	Enhancers	NHEK	skin
35	chr4:186663800-186664800	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:186663800-186665000	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr4:186663800-186666000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr4:186663800-186667000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:186663800-186667000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:186664000-186664600	Enhancers	Fetal Thymus	thymus
41	chr4:186664000-186664800	Enhancers	GM12878-XiMat	blood
42	chr4:186664000-186666200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr4:186664200-186664800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:186664200-186665200	Enhancers	HSMM	muscle
45	chr4:186664200-186666800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr4:186664200-186667000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr4:186664200-186667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:186664200-186670200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr4:186664200-186670800	Weak transcription	Colon Smooth Muscle	Colon
50	chr4:186664200-186675800	Weak transcription	Stomach Mucosa	stomach

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