Variant report

Variant	rs9497428
Chromosome Location	chr6:146238943-146238944
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:146238336..146240522-chr6:146248867..146251006,2	K562	blood:
2	chr6:146235496..146240522-chr6:146247458..146252283,5	K562	blood:

Variant related genes	Relation type
ENSG00000146414	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs7750117	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9322039	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9485022	1.00[AFR][1000 genomes]
rs9485023	1.00[YRI][hapmap]
rs9485027	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9485031	1.00[AFR][1000 genomes]
rs9485032	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9485034	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9485035	1.00[AFR][1000 genomes]
rs9497409	1.00[YRI][hapmap]
rs9497415	1.00[YRI][hapmap]
rs9497420	1.00[YRI][hapmap]
rs9497429	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs9497436	1.00[YRI][hapmap];1.00[AFR][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	chr6:146207800-146240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:146210400-146282000	Weak transcription	Spleen	Spleen
3	chr6:146215000-146242200	Weak transcription	Hela-S3	cervix
4	chr6:146219200-146249200	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:146219200-146276600	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:146219600-146250600	Strong transcription	Dnd41	blood
7	chr6:146219800-146271400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:146220000-146249400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:146220000-146255200	Weak transcription	Gastric	stomach
10	chr6:146220000-146259400	Weak transcription	Esophagus	oesophagus
11	chr6:146220000-146276800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:146220000-146283200	Weak transcription	Small Intestine	intestine
13	chr6:146220200-146268400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:146220400-146255200	Weak transcription	Fetal Intestine Small	intestine
15	chr6:146223800-146248600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr6:146224600-146257000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr6:146225200-146268600	Weak transcription	Stomach Mucosa	stomach
18	chr6:146225400-146248400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:146225400-146249600	Strong transcription	Adipose Nuclei	Adipose
20	chr6:146225800-146243800	Weak transcription	Psoas Muscle	Psoas
21	chr6:146226000-146249000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:146226000-146249600	Strong transcription	Liver	Liver
23	chr6:146226200-146284200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr6:146226400-146268600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:146226600-146249200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:146226800-146249400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:146226800-146270400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:146227200-146248400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr6:146227200-146268800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:146227400-146241200	Strong transcription	Primary hematopoietic stem cells	blood
31	chr6:146227400-146248400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:146227600-146248400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:146227800-146248200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:146228000-146249200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:146228000-146249400	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr6:146228400-146245800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:146228600-146248400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr6:146228600-146248600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:146229000-146239800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:146229800-146248600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr6:146230600-146270400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr6:146231600-146239600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr6:146231800-146240400	Weak transcription	NHEK	skin
44	chr6:146231800-146242400	Weak transcription	Colonic Mucosa	Colon
45	chr6:146231800-146256000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr6:146232000-146240400	Weak transcription	Right Ventricle	heart
47	chr6:146232000-146262400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:146232000-146282800	Weak transcription	NHLF	lung
49	chr6:146232800-146255800	Weak transcription	Lung	lung
50	chr6:146233200-146247400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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