Variant report

Variant	rs9643148
Chromosome Location	chr8:121706867-121706868
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	chr8:121706289..121708004-chr8:121708305..121711246,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11995748	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4242317	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4503138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4870747	0.82[CEU][hapmap]
rs4871099	0.93[YRI][hapmap]
rs4871102	0.82[CEU][hapmap]
rs6984374	0.81[TSI][hapmap]
rs6989032	0.93[YRI][hapmap]
rs6989253	0.93[YRI][hapmap]
rs6990640	0.87[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6995596	0.81[TSI][hapmap]
rs7836660	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9643147	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891422	chr8:121680857-121819478	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121679800-121714600	Weak transcription	Spleen	Spleen
2	chr8:121685400-121714400	Weak transcription	Pancreas	Pancrea
3	chr8:121685600-121714200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:121686800-121709000	Weak transcription	Small Intestine	intestine
5	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
7	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
9	chr8:121701200-121707600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:121703000-121714200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr8:121704000-121714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:121704800-121714400	Weak transcription	Psoas Muscle	Psoas
13	chr8:121705200-121708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:121705200-121711400	Weak transcription	Adipose Nuclei	Adipose
15	chr8:121705200-121715800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:121705400-121711600	Weak transcription	Brain Anterior Caudate	brain
17	chr8:121705400-121711600	Weak transcription	Colon Smooth Muscle	Colon
18	chr8:121705400-121712800	Weak transcription	NHDF-Ad	bronchial
19	chr8:121705400-121715400	Weak transcription	Fetal Kidney	kidney
20	chr8:121705800-121707200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:121705800-121707400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr8:121706000-121708600	Weak transcription	Osteobl	bone
23	chr8:121706000-121708800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:121706000-121711200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:121706000-121712600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:121706000-121712600	Weak transcription	Primary T cells from cord blood	blood
27	chr8:121706000-121712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:121706000-121712800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:121706000-121713200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:121706000-121713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:121706000-121713400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr8:121706000-121715600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr8:121706000-121718400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:121706000-121719000	Weak transcription	HSMM	muscle
35	chr8:121706200-121707200	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:121706200-121708000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:121706200-121708000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr8:121706200-121708000	Weak transcription	Fetal Intestine Large	intestine
39	chr8:121706200-121708600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr8:121706200-121708800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr8:121706200-121709200	Weak transcription	Fetal Intestine Small	intestine
42	chr8:121706200-121709200	Weak transcription	HSMMtube	muscle
43	chr8:121706200-121710800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:121706200-121711000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:121706200-121711000	Weak transcription	Liver	Liver
46	chr8:121706200-121711200	Weak transcription	Aorta	Aorta
47	chr8:121706200-121711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:121706200-121712800	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:121706200-121713200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:121706200-121713400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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