Variant report

Variant	rs6469946
Chromosome Location	chr8:121706405-121706406
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	chr8:121706289..121708004-chr8:121708305..121711246,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs4369031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4387018	1.00[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4455881	0.80[ASW][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4532637	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4870746	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs59425705	0.86[ASN][1000 genomes]
rs59526603	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6469947	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66486105	0.86[ASN][1000 genomes]
rs66559448	0.86[ASN][1000 genomes]
rs6985758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7004385	1.00[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7005038	1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682538	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72682539	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72682541	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72682542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814101	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7841636	1.00[ASW][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[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	chr8:121690200-121706600	Strong transcription	HepG2	liver
6	chr8:121697800-121713600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:121697800-121714400	Weak transcription	Placenta	Placenta
8	chr8:121698400-121709000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:121699800-121714200	Weak transcription	Fetal Thymus	thymus
10	chr8:121701200-121707600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:121703000-121714200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:121704000-121714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:121704200-121706600	Strong transcription	Primary B cells from cord blood	blood
14	chr8:121704800-121714400	Weak transcription	Psoas Muscle	Psoas
15	chr8:121705200-121708600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:121705200-121711400	Weak transcription	Adipose Nuclei	Adipose
17	chr8:121705200-121715800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:121705400-121711600	Weak transcription	Brain Anterior Caudate	brain
19	chr8:121705400-121711600	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:121705400-121712800	Weak transcription	NHDF-Ad	bronchial
21	chr8:121705400-121715400	Weak transcription	Fetal Kidney	kidney
22	chr8:121705800-121707200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr8:121705800-121707400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:121706000-121708600	Weak transcription	Osteobl	bone
25	chr8:121706000-121708800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr8:121706000-121711200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr8:121706000-121712600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:121706000-121712600	Weak transcription	Primary T cells from cord blood	blood
29	chr8:121706000-121712800	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr8:121706000-121712800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:121706000-121713200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr8:121706000-121713200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr8:121706000-121713400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr8:121706000-121715600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr8:121706000-121718400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:121706000-121719000	Weak transcription	HSMM	muscle
37	chr8:121706200-121707200	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:121706200-121708000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr8:121706200-121708000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:121706200-121708000	Weak transcription	Fetal Intestine Large	intestine
41	chr8:121706200-121708600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:121706200-121708800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:121706200-121709200	Weak transcription	Fetal Intestine Small	intestine
44	chr8:121706200-121709200	Weak transcription	HSMMtube	muscle
45	chr8:121706200-121710800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:121706200-121711000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr8:121706200-121711000	Weak transcription	Liver	Liver
48	chr8:121706200-121711200	Weak transcription	Aorta	Aorta
49	chr8:121706200-121711400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:121706200-121712800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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