Variant report

Variant	rs17075530
Chromosome Location	chr6:146269821-146269822
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:146264461..146268598-chr6:146269402..146274122,4	K562	blood:
2	chr6:146267312..146272406-chr6:146283200..146287015,6	K562	blood:
3	chr6:146262853..146267292-chr6:146269402..146273055,5	K562	blood:

Variant related genes	Relation type
ENSG00000146414	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17054153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17075370	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17075385	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17075389	0.82[ASN][1000 genomes]
rs17075400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17075404	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17075411	0.82[ASN][1000 genomes]
rs17075414	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17075446	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17075465	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17075499	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17075501	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17075511	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17075515	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17075527	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17075544	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17075546	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17075548	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17075552	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17075584	0.94[ASN][1000 genomes]
rs17075588	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17075604	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17075636	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs17075661	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17075663	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17075666	1.00[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1970304	1.00[AFR][1000 genomes]
rs6570721	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7739858	0.94[ASN][1000 genomes]
rs9497449	0.94[ASN][1000 genomes]
rs999859	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146210400-146282000	Weak transcription	Spleen	Spleen
2	chr6:146219200-146276600	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr6:146219800-146271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:146220000-146276800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:146220000-146283200	Weak transcription	Small Intestine	intestine
6	chr6:146226200-146284200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:146226800-146270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr6:146230600-146270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr6:146232000-146282800	Weak transcription	NHLF	lung
10	chr6:146235600-146283800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:146241600-146271400	Weak transcription	HSMMtube	muscle
12	chr6:146244200-146270400	Weak transcription	Colonic Mucosa	Colon
13	chr6:146250800-146270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:146250800-146276400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:146251000-146276000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:146251000-146276200	Strong transcription	Primary B cells from cord blood	blood
17	chr6:146251200-146276000	Strong transcription	Fetal Thymus	thymus
18	chr6:146251600-146270400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr6:146251600-146276400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:146251600-146276600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr6:146251600-146276600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:146252200-146273400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr6:146252200-146274600	Strong transcription	Placenta	Placenta
24	chr6:146253400-146276400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:146253600-146276000	Strong transcription	Fetal Lung	lung
26	chr6:146255000-146270400	Weak transcription	Fetal Brain Male	brain
27	chr6:146255800-146282000	Weak transcription	Right Ventricle	heart
28	chr6:146256600-146282000	Weak transcription	Lung	lung
29	chr6:146257400-146275800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:146257800-146270400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:146258000-146276600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr6:146258400-146276400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr6:146258400-146276600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:146258400-146276600	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr6:146258600-146270400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:146258600-146276200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr6:146258600-146276200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:146258600-146276400	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:146258600-146276600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr6:146258600-146276600	Strong transcription	Dnd41	blood
41	chr6:146258800-146276200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr6:146259000-146276000	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr6:146259200-146273400	Strong transcription	Brain Anterior Caudate	brain
44	chr6:146259200-146274600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:146259600-146282000	Weak transcription	Esophagus	oesophagus
46	chr6:146259600-146283200	Weak transcription	Fetal Intestine Small	intestine
47	chr6:146261400-146272200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr6:146261600-146275600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr6:146261800-146272800	Strong transcription	HepG2	liver
50	chr6:146261800-146274200	Strong transcription	Primary T cells from cord blood	blood

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