Variant report

Variant	rs1678205
Chromosome Location	chr2:231366408-231366409
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	chr2:231363361..231365003-chr2:231366282..231368431,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1102957	0.92[EUR][1000 genomes]
rs1104327	0.93[EUR][1000 genomes]
rs13000851	0.93[EUR][1000 genomes]
rs1622980	0.81[CEU][hapmap]
rs1649876	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649902	0.81[EUR][1000 genomes]
rs1649906	0.93[EUR][1000 genomes]
rs1649907	0.93[EUR][1000 genomes]
rs1649908	0.93[EUR][1000 genomes]
rs1649909	0.90[EUR][1000 genomes]
rs1649910	0.83[EUR][1000 genomes]
rs1649921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1649925	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678151	0.85[AFR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1678187	0.93[EUR][1000 genomes]
rs1678189	0.91[EUR][1000 genomes]
rs1678190	0.84[EUR][1000 genomes]
rs1678199	0.94[EUR][1000 genomes]
rs1678210	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1678211	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2195196	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2219811	0.93[CEU][hapmap]
rs2434050	0.93[EUR][1000 genomes]
rs33078	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs33079	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4973324	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4973325	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62195461	0.93[EUR][1000 genomes]
rs6436942	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6436944	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6436945	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6717269	0.93[EUR][1000 genomes]
rs6724975	0.93[EUR][1000 genomes]
rs6740016	0.93[EUR][1000 genomes]
rs699660	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs699661	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs836232	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs836236	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs836237	0.93[EUR][1000 genomes]
rs836238	0.93[EUR][1000 genomes]
rs836239	0.93[EUR][1000 genomes]
rs890668	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231336800-231376000	Weak transcription	Colonic Mucosa	Colon
2	chr2:231338400-231376200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:231346600-231370000	Weak transcription	K562	blood
4	chr2:231352600-231376800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:231355200-231380400	Strong transcription	Adipose Nuclei	Adipose
6	chr2:231355600-231378600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:231355800-231381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:231356200-231369200	Strong transcription	Fetal Thymus	thymus
9	chr2:231356400-231377000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:231357200-231377800	Weak transcription	Stomach Mucosa	stomach
11	chr2:231357400-231367000	Strong transcription	Liver	Liver
12	chr2:231358400-231369800	Strong transcription	HUVEC	blood vessel
13	chr2:231358400-231376600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:231358600-231377400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:231359600-231380400	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:231359800-231368400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:231361800-231368600	Weak transcription	NHDF-Ad	bronchial
18	chr2:231361800-231374200	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:231361800-231381400	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr2:231362000-231376600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:231362000-231376600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:231362200-231366800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:231362200-231374800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:231362200-231378600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:231362400-231368400	Strong transcription	GM12878-XiMat	blood
26	chr2:231362400-231378400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:231362400-231378600	Strong transcription	Primary T cells from cord blood	blood
28	chr2:231362600-231367600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:231362600-231378600	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr2:231362600-231380600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:231362800-231376600	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr2:231363000-231376600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:231363200-231366600	Strong transcription	Spleen	Spleen
34	chr2:231363200-231370200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:231363200-231372000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:231363400-231366600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:231363400-231366800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:231363400-231367400	Strong transcription	Thymus	Thymus
39	chr2:231363400-231369400	Strong transcription	Aorta	Aorta
40	chr2:231363400-231372600	Strong transcription	Lung	lung
41	chr2:231363400-231372800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:231363400-231377000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:231363800-231380200	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:231364000-231368800	Strong transcription	Primary B cells from cord blood	blood
45	chr2:231364000-231369200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:231364200-231381000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:231364600-231368400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr2:231364600-231369200	Weak transcription	Psoas Muscle	Psoas
49	chr2:231364600-231371000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:231364600-231385800	Weak transcription	HSMMtube	muscle

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