Variant report

Variant	rs6531978
Chromosome Location	chr4:88277927-88277928
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	chr4:88275401..88278298-chr4:88313681..88315567,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10009871	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025212	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10222732	0.86[JPT][hapmap]
rs6531971	0.81[ASN][1000 genomes]
rs6857133	0.89[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7671900	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7679024	0.95[ASN][1000 genomes]
rs7692397	0.85[CHB][hapmap]
rs9991773	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9996312	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[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	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:88255800-88278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:88256200-88292800	Weak transcription	Gastric	stomach
7	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
8	chr4:88257000-88291000	Weak transcription	HUVEC	blood vessel
9	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:88258000-88278000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:88258000-88285400	Weak transcription	Small Intestine	intestine
12	chr4:88259200-88283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:88261000-88280000	Weak transcription	Left Ventricle	heart
14	chr4:88261000-88283200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:88261200-88285000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:88262200-88280200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:88263000-88278000	Weak transcription	Stomach Mucosa	stomach
18	chr4:88263000-88280000	Weak transcription	Pancreas	Pancrea
19	chr4:88263200-88281600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:88264200-88285600	Weak transcription	Spleen	Spleen
21	chr4:88264400-88279800	Weak transcription	Hela-S3	cervix
22	chr4:88266200-88285000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:88266400-88278200	Weak transcription	Brain Angular Gyrus	brain
24	chr4:88266400-88292200	Weak transcription	Fetal Brain Male	brain
25	chr4:88266600-88278000	Weak transcription	Thymus	Thymus
26	chr4:88266600-88288200	Weak transcription	Brain Germinal Matrix	brain
27	chr4:88267200-88281400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:88267400-88278000	Weak transcription	Primary B cells from peripheral blood	blood
29	chr4:88267400-88278000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:88267400-88290600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:88267600-88292400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
34	chr4:88268000-88280000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:88268000-88292200	Weak transcription	Ovary	ovary
36	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
37	chr4:88273000-88292200	Weak transcription	Brain Substantia Nigra	brain
38	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
39	chr4:88273800-88284000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr4:88274200-88278000	Strong transcription	Liver	Liver
41	chr4:88274200-88279000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr4:88274200-88281000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr4:88274200-88288200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:88274200-88296200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr4:88274400-88278200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:88274400-88278800	Strong transcription	Placenta	Placenta
47	chr4:88274400-88286800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr4:88274400-88286800	Strong transcription	HepG2	liver
49	chr4:88274400-88296400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:88274400-88297000	Strong transcription	Rectal Mucosa Donor 31	rectum

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