Variant report

Variant	rs6847612
Chromosome Location	chr4:82361296-82361297
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82361014..82362993-chr4:82366245..82367851,2	K562	blood:
2	chr4:82341314..82344179-chr4:82360678..82363894,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1035007	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs1077802	0.86[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1077803	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1348600	0.88[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1444893	0.87[YRI][hapmap]
rs1562138	0.86[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17005141	0.81[JPT][hapmap]
rs1822816	0.84[ASN][1000 genomes]
rs2120817	0.82[CHB][hapmap];0.93[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2159657	0.83[CEU][hapmap]
rs28409763	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28464436	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59383678	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6814080	0.95[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6829780	0.86[ASN][1000 genomes]
rs6839120	0.93[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs748436	0.82[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs755527	0.91[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9307783	0.87[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82342800-82366600	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:82345600-82380600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:82345800-82361400	Weak transcription	Stomach Mucosa	stomach
4	chr4:82345800-82367600	Strong transcription	Liver	Liver
5	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr4:82346200-82375800	Strong transcription	Primary B cells from peripheral blood	blood
7	chr4:82346200-82381600	Strong transcription	Fetal Thymus	thymus
8	chr4:82346400-82368000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:82346600-82380800	Strong transcription	Adipose Nuclei	Adipose
10	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
11	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:82347000-82375600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:82347200-82378800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:82347400-82362000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:82349000-82361400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:82349000-82366600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr4:82349000-82367800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:82349000-82368800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:82349000-82374800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:82349200-82368000	Weak transcription	Brain Germinal Matrix	brain
23	chr4:82349600-82364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:82350200-82361400	Weak transcription	Fetal Brain Male	brain
25	chr4:82350600-82363000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr4:82351000-82377600	Weak transcription	Right Ventricle	heart
27	chr4:82351200-82366400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:82351800-82362800	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:82351800-82362800	Weak transcription	Gastric	stomach
30	chr4:82351800-82369200	Weak transcription	Esophagus	oesophagus
31	chr4:82351800-82375000	Weak transcription	Pancreas	Pancrea
32	chr4:82351800-82382800	Weak transcription	Spleen	Spleen
33	chr4:82352200-82369000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:82353400-82366400	Weak transcription	Dnd41	blood
36	chr4:82353800-82364800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:82353800-82375200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr4:82354600-82369000	Weak transcription	Fetal Heart	heart
40	chr4:82355000-82366600	Weak transcription	Brain Angular Gyrus	brain
41	chr4:82355400-82362200	Weak transcription	Small Intestine	intestine
42	chr4:82355800-82363000	Weak transcription	Fetal Brain Female	brain
43	chr4:82356000-82362600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:82356000-82366600	Weak transcription	Thymus	Thymus
45	chr4:82356400-82367400	Weak transcription	Fetal Stomach	stomach
46	chr4:82357400-82372800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:82357800-82375400	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:82358600-82370000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr4:82358600-82372000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:82358600-82374000	Strong transcription	Primary B cells from cord blood	blood

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