Variant report

Variant	rs4669122
Chromosome Location	chr2:7108212-7108213
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	chr2:7100183..7102854-chr2:7105453..7109313,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11685858	0.85[CEU][hapmap];0.87[MEX][hapmap];0.82[TSI][hapmap]
rs1448869	0.84[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1448870	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2166967	0.84[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34393586	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3771999	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772000	0.85[CEU][hapmap];0.90[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4669123	0.85[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55736658	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs771254	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs771272	0.85[CEU][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap]
rs881938	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[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	nsv833326	chr2:6985027-7142564	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv2598	chr2:7088737-7133415	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:7078200-7110800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:7079000-7113400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:7081400-7112200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:7083800-7129600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:7084200-7122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:7084400-7109600	Weak transcription	Fetal Thymus	thymus
7	chr2:7084400-7110800	Weak transcription	Esophagus	oesophagus
8	chr2:7084600-7112800	Weak transcription	Thymus	Thymus
9	chr2:7085000-7120200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:7085400-7110400	Weak transcription	Brain Germinal Matrix	brain
11	chr2:7096800-7120600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:7097200-7126200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:7098000-7115800	Weak transcription	HepG2	liver
14	chr2:7099000-7123600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr2:7099400-7112200	Weak transcription	Lung	lung
16	chr2:7099800-7108400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr2:7100600-7110800	Weak transcription	Fetal Kidney	kidney
18	chr2:7101000-7110800	Weak transcription	Fetal Stomach	stomach
19	chr2:7101000-7113400	Weak transcription	NHDF-Ad	bronchial
20	chr2:7101000-7117400	Weak transcription	Right Atrium	heart
21	chr2:7101000-7130000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr2:7101200-7114000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:7101200-7116000	Weak transcription	Gastric	stomach
24	chr2:7101200-7117400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:7101200-7126200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:7101200-7144000	Weak transcription	Aorta	Aorta
27	chr2:7101200-7154000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:7101400-7117200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:7101600-7108400	Weak transcription	Adipose Nuclei	Adipose
30	chr2:7101600-7117200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr2:7101800-7111000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:7101800-7126200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:7102000-7110800	Weak transcription	Fetal Brain Female	brain
34	chr2:7102000-7117400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr2:7102200-7117400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr2:7102400-7109200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:7102400-7112000	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:7102400-7117000	Weak transcription	Fetal Brain Male	brain
39	chr2:7102600-7112400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:7104000-7108400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:7104200-7109600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:7104200-7120600	Strong transcription	Dnd41	blood
43	chr2:7105600-7120600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:7105800-7109400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:7105800-7111200	Weak transcription	Pancreas	Pancrea
46	chr2:7106000-7109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:7106200-7109000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:7106200-7110000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:7106200-7110200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:7106200-7110400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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