Variant report

Variant	rs9504288
Chromosome Location	chr6:4897756-4897757
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	chr6:4895552..4898215-chr6:4935545..4937308,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61739238	1.00[AMR][1000 genomes]
rs73362503	1.00[AMR][1000 genomes]
rs9502246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9504272	1.00[AMR][1000 genomes]
rs9504274	1.00[AMR][1000 genomes]
rs9504280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9504283	1.00[AFR][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	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4872200-4898800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:4878200-4905200	Weak transcription	Colon Smooth Muscle	Colon
3	chr6:4879600-4906200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:4880400-4907800	Weak transcription	Small Intestine	intestine
5	chr6:4880600-4898600	Weak transcription	HSMM	muscle
6	chr6:4882800-4909000	Weak transcription	Brain Anterior Caudate	brain
7	chr6:4884000-4898400	Weak transcription	Psoas Muscle	Psoas
8	chr6:4884800-4903800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:4885000-4908200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr6:4887200-4901400	Weak transcription	HSMMtube	muscle
11	chr6:4888000-4906400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr6:4889200-4906400	Weak transcription	NHLF	lung
13	chr6:4889400-4898400	Weak transcription	Fetal Lung	lung
14	chr6:4889600-4898400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:4890200-4898800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr6:4890200-4901800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:4890400-4897800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr6:4890600-4913800	Weak transcription	Hela-S3	cervix
19	chr6:4890800-4900600	Weak transcription	NH-A	brain
20	chr6:4891200-4899000	Weak transcription	Brain Germinal Matrix	brain
21	chr6:4891200-4905600	Weak transcription	Fetal Kidney	kidney
22	chr6:4891200-4907400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr6:4891400-4899200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:4891400-4900400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:4891400-4906400	Weak transcription	Fetal Heart	heart
26	chr6:4891600-4899000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr6:4891600-4899000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr6:4891800-4898000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:4892000-4897800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr6:4892000-4898000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:4892000-4898400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:4892000-4898600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:4892000-4898600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr6:4892000-4898600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:4892000-4898600	Strong transcription	Fetal Intestine Small	intestine
36	chr6:4892000-4898800	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr6:4892000-4898800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr6:4892000-4899000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr6:4892200-4898800	Strong transcription	Primary B cells from peripheral blood	blood
40	chr6:4892800-4906400	Weak transcription	HUVEC	blood vessel
41	chr6:4892800-4906600	Weak transcription	Osteobl	bone
42	chr6:4893000-4899400	Weak transcription	Brain Substantia Nigra	brain
43	chr6:4893200-4898400	Weak transcription	HMEC	breast
44	chr6:4893200-4912600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:4893400-4903400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:4893400-4903400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:4893400-4906600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr6:4893400-4906600	Weak transcription	Thymus	Thymus
49	chr6:4893400-4909000	Weak transcription	Brain Angular Gyrus	brain
50	chr6:4893600-4898200	Weak transcription	Left Ventricle	heart

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