Variant report

Variant	rs3923580
Chromosome Location	chr6:146230332-146230333
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:146133273..146135855-chr6:146228681..146230376,2	K562	blood:
2	chr6:146223883..146226442-chr6:146227329..146230872,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10447450	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457789	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10457790	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11232	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189548	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192366	0.81[AMR][1000 genomes]
rs12195987	0.91[CEU][hapmap]
rs12196298	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12198683	0.91[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12200607	0.91[CEU][hapmap]
rs12212636	1.00[ASN][1000 genomes]
rs12214668	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12214705	0.91[CEU][hapmap];0.83[AMR][1000 genomes]
rs12216492	0.87[ASN][1000 genomes]
rs13209322	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17225973	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211445	1.00[ASN][1000 genomes]
rs35667536	0.83[AMR][1000 genomes]
rs35807318	0.83[AMR][1000 genomes]
rs3811105	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs714680	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv437525	chr6:146212285-146230454	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146201200-146230400	Weak transcription	NHEK	skin
2	chr6:146207800-146240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:146210200-146231000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr6:146210400-146230400	Weak transcription	NH-A	brain
5	chr6:146210400-146282000	Weak transcription	Spleen	Spleen
6	chr6:146211600-146236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr6:146213800-146230400	Weak transcription	HUVEC	blood vessel
8	chr6:146215000-146242200	Weak transcription	Hela-S3	cervix
9	chr6:146219200-146249200	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr6:146219200-146276600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr6:146219600-146250600	Strong transcription	Dnd41	blood
12	chr6:146219800-146271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:146220000-146231400	Weak transcription	Aorta	Aorta
14	chr6:146220000-146249400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:146220000-146255200	Weak transcription	Gastric	stomach
16	chr6:146220000-146259400	Weak transcription	Esophagus	oesophagus
17	chr6:146220000-146276800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:146220000-146283200	Weak transcription	Small Intestine	intestine
19	chr6:146220200-146231400	Weak transcription	Thymus	Thymus
20	chr6:146220200-146231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:146220200-146268400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:146220400-146255200	Weak transcription	Fetal Intestine Small	intestine
23	chr6:146221800-146230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:146223800-146248600	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr6:146224600-146257000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr6:146224800-146233200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:146224800-146235800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:146224800-146235800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:146224800-146235800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:146224800-146237200	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr6:146225000-146230600	Weak transcription	NHDF-Ad	bronchial
32	chr6:146225200-146233400	Strong transcription	Ovary	ovary
33	chr6:146225200-146268600	Weak transcription	Stomach Mucosa	stomach
34	chr6:146225400-146235000	Strong transcription	Brain Germinal Matrix	brain
35	chr6:146225400-146248400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr6:146225400-146249600	Strong transcription	Adipose Nuclei	Adipose
37	chr6:146225600-146235800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr6:146225600-146237600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:146225800-146233600	Strong transcription	Fetal Lung	lung
40	chr6:146225800-146235600	Strong transcription	Placenta	Placenta
41	chr6:146225800-146243800	Weak transcription	Psoas Muscle	Psoas
42	chr6:146226000-146233200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:146226000-146249000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:146226000-146249600	Strong transcription	Liver	Liver
45	chr6:146226200-146284200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:146226400-146231200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:146226400-146231400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:146226400-146231400	Weak transcription	Right Ventricle	heart
49	chr6:146226400-146231600	Strong transcription	Fetal Brain Male	brain
50	chr6:146226400-146232000	Strong transcription	Brain Angular Gyrus	brain

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