Variant report

Variant	rs2278883
Chromosome Location	chr2:173996917-173996918
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	chr2:173972338..173974560-chr2:173994516..173997449,2	K562	blood:
2	chr2:173988691..173991779-chr2:173993829..173996976,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12986917	0.84[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap]
rs12987496	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs12989116	0.81[CHB][hapmap]
rs12997078	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12998711	0.89[ASN][1000 genomes]
rs13008554	0.81[ASN][1000 genomes]
rs13017210	0.87[ASN][1000 genomes]
rs13020796	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13022800	0.88[CEU][hapmap];0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs13029949	0.89[ASN][1000 genomes]
rs13032010	0.82[CHB][hapmap]
rs16861272	0.88[ASN][1000 genomes]
rs16861278	0.83[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17302977	0.84[CEU][hapmap];0.82[CHB][hapmap];0.84[CHD][hapmap];0.85[GIH][hapmap];0.86[TSI][hapmap]
rs17761169	1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2076857	0.80[ASN][1000 genomes]
rs2289399	0.82[CHB][hapmap]
rs34014656	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34658268	0.86[ASN][1000 genomes]
rs34681024	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36103648	0.83[ASN][1000 genomes]
rs3754741	0.82[CHB][hapmap]
rs3754743	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs3754744	0.82[CHB][hapmap];0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs3769167	0.81[CHB][hapmap]
rs3769187	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs3769192	0.88[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769194	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769203	0.81[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs4280429	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4972533	0.82[CHB][hapmap]
rs6433395	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[YRI][hapmap];0.86[ASN][1000 genomes]
rs6741675	0.87[ASN][1000 genomes]
rs67422536	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67683956	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71417423	0.89[ASN][1000 genomes]
rs72905046	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
3	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
4	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:173986200-173997200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:173988000-173999200	Weak transcription	Dnd41	blood
7	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
9	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
10	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:173991800-173999600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr2:173991800-174000800	Weak transcription	NH-A	brain
13	chr2:173991800-174005200	Weak transcription	K562	blood
14	chr2:173992000-173999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:173992000-173999400	Weak transcription	Osteobl	bone
16	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:173992200-173999200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:173993200-173999400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:173994200-173997600	Enhancers	NHDF-Ad	bronchial
20	chr2:173994200-173998400	Enhancers	Fetal Heart	heart
21	chr2:173995000-173997400	Enhancers	Colon Smooth Muscle	Colon
22	chr2:173995000-173997800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:173995000-173998400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:173995200-173997400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:173995200-173997400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:173995200-173998400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:173995200-173998600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:173995200-174000600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:173995400-173997400	Enhancers	Left Ventricle	heart
30	chr2:173995400-173997400	Enhancers	Psoas Muscle	Psoas
31	chr2:173995400-173998200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr2:173995800-173997400	Weak transcription	NHLF	lung
33	chr2:173995800-173997600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:173995800-173998000	Weak transcription	GM12878-XiMat	blood
35	chr2:173995800-173999400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:173995800-174000800	Weak transcription	A549	lung
37	chr2:173996000-173997000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:173996000-173997200	Weak transcription	Right Atrium	heart
39	chr2:173996000-173999400	Enhancers	NHEK	skin
40	chr2:173996000-174001000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:173996000-174001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:173996200-173997400	Enhancers	Fetal Brain Male	brain
43	chr2:173996200-173998000	Enhancers	Fetal Brain Female	brain
44	chr2:173996200-173999400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:173996200-174000600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:173996400-173997000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:173996400-173997400	Enhancers	Lung	lung
48	chr2:173996400-174000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:173996600-173997400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:173996600-173997400	Enhancers	Stomach Smooth Muscle	stomach

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