Variant report

Variant	rs2476262
Chromosome Location	chr9:5795470-5795471
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:5793511..5796072-chr9:5800042..5802982,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10975340	1.00[EUR][1000 genomes]
rs1141025	1.00[EUR][1000 genomes]
rs1260128	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1260130	0.81[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1260132	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1260134	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1260135	1.00[EUR][1000 genomes]
rs1745887	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1745888	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1776008	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760408	1.00[EUR][1000 genomes]
rs2760409	0.82[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760410	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797512	0.81[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2797514	1.00[EUR][1000 genomes]
rs2797516	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2797517	0.83[AFR][1000 genomes]
rs2797519	1.00[EUR][1000 genomes]
rs58370080	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6477001	1.00[EUR][1000 genomes]
rs6477002	1.00[EUR][1000 genomes]
rs7037680	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7038243	0.82[YRI][hapmap]
rs7042100	1.00[EUR][1000 genomes]
rs7046793	1.00[EUR][1000 genomes]
rs73377834	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017103	chr9:5509431-5987907	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv539965	chr9:5509431-5987907	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1019444	chr9:5598677-5807009	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv892151	chr9:5602528-5841438	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv948847	chr9:5712626-6417677	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv3331803	chr9:5766129-5905103	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:5775000-5797000	Weak transcription	Psoas Muscle	Psoas
2	chr9:5779200-5809600	Weak transcription	NHDF-Ad	bronchial
3	chr9:5779200-5832200	Weak transcription	Fetal Brain Male	brain
4	chr9:5779600-5814000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr9:5779600-5827800	Weak transcription	Small Intestine	intestine
6	chr9:5780600-5799400	Weak transcription	Osteobl	bone
7	chr9:5781000-5799400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:5784200-5831600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:5786800-5832200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:5787000-5830200	Weak transcription	Dnd41	blood
11	chr9:5787200-5799200	Weak transcription	Fetal Kidney	kidney
12	chr9:5787200-5799400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr9:5787200-5799400	Weak transcription	Fetal Lung	lung
14	chr9:5787200-5799400	Weak transcription	Placenta	Placenta
15	chr9:5787200-5804200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:5787200-5815000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr9:5787400-5796400	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr9:5787400-5797600	Weak transcription	A549	lung
19	chr9:5787400-5799000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:5787400-5799400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:5787400-5799400	Weak transcription	Ovary	ovary
22	chr9:5787400-5799400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:5787400-5799400	Weak transcription	NHEK	skin
24	chr9:5787400-5801000	Weak transcription	Colonic Mucosa	Colon
25	chr9:5787400-5832000	Weak transcription	Fetal Brain Female	brain
26	chr9:5787600-5796200	Weak transcription	Fetal Thymus	thymus
27	chr9:5787600-5797000	Weak transcription	Fetal Intestine Small	intestine
28	chr9:5787600-5797600	Weak transcription	Colon Smooth Muscle	Colon
29	chr9:5787600-5801000	Weak transcription	Fetal Intestine Large	intestine
30	chr9:5787600-5801000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr9:5787600-5801600	Weak transcription	Thymus	Thymus
32	chr9:5787600-5806400	Weak transcription	Fetal Stomach	stomach
33	chr9:5787600-5809400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr9:5787600-5809600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:5787600-5809600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:5787600-5809600	Weak transcription	Left Ventricle	heart
37	chr9:5787600-5812400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:5787600-5812800	Weak transcription	Lung	lung
39	chr9:5787600-5817600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:5787600-5831600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr9:5787600-5832000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:5787600-5832200	Weak transcription	Esophagus	oesophagus
43	chr9:5787800-5797000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:5787800-5799000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:5787800-5799400	Weak transcription	HUVEC	blood vessel
46	chr9:5787800-5801200	Weak transcription	Stomach Mucosa	stomach
47	chr9:5787800-5818000	Weak transcription	HSMM	muscle
48	chr9:5788000-5809600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr9:5788000-5817600	Weak transcription	K562	blood
50	chr9:5788400-5798400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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