Variant report

Variant	rs2176429
Chromosome Location	chr2:127449666-127449667
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:127448304..127450684-chr2:127460998..127463238,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10191577	0.94[CHB][hapmap]
rs1530149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1968539	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2176428	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2280238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2280239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2280240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3791345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs382844	0.95[YRI][hapmap]
rs6713909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6732145	0.96[CEU][hapmap];0.94[CHB][hapmap]
rs893801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs938733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002265	chr2:127029745-127733458	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv535919	chr2:127029745-127733458	Strong transcription Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv583011	chr2:127386211-127489031	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv875007	chr2:127426697-127454230	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv965826	chr2:127445780-127453618	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3373657	chr2:127446007-127449972	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2429496	chr2:127446841-127451443	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv875009	chr2:127447393-127452219	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3422935	chr2:127447701-127451439	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv875010	chr2:127447829-127452764	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3428541	chr2:127448190-127450121	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3528056	chr2:127448510-127455016	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3528057	chr2:127448510-127455016	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3366884	chr2:127448580-127450678	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3357673	chr2:127448720-127452655	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3423852	chr2:127448933-127452547	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127422200-127453400	Weak transcription	Colonic Mucosa	Colon
2	chr2:127424200-127451000	Weak transcription	NHLF	lung
3	chr2:127433600-127451400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:127433800-127452600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:127434000-127451000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:127434000-127451000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:127434200-127457200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:127434800-127453000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:127434800-127453200	Weak transcription	Placenta	Placenta
10	chr2:127435200-127457400	Weak transcription	Fetal Kidney	kidney
11	chr2:127435400-127452800	Weak transcription	Fetal Intestine Large	intestine
12	chr2:127439800-127457600	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:127440400-127451200	Weak transcription	Esophagus	oesophagus
14	chr2:127442000-127456800	Weak transcription	Osteobl	bone
15	chr2:127443400-127452600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr2:127443600-127458800	Strong transcription	Primary T cells from cord blood	blood
17	chr2:127444000-127456400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:127444000-127458200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr2:127444200-127451400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:127444400-127449800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:127444600-127451200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:127445200-127456000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:127445400-127451200	Weak transcription	Fetal Thymus	thymus
24	chr2:127445400-127451400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:127445400-127456400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:127446000-127451400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr2:127446000-127451400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:127446000-127451600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr2:127446000-127451800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:127446000-127454600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:127446200-127450200	Weak transcription	Pancreas	Pancrea
32	chr2:127446200-127451200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:127446400-127453400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr2:127446400-127456200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:127446400-127456200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:127446600-127456600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:127446800-127451200	Weak transcription	HSMMtube	muscle
38	chr2:127446800-127458200	Weak transcription	NHDF-Ad	bronchial
39	chr2:127447400-127455800	Strong transcription	Ovary	ovary
40	chr2:127447400-127456200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:127447400-127457000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:127447600-127456000	Strong transcription	Fetal Lung	lung
43	chr2:127447600-127456200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:127447600-127456200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:127447600-127456200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr2:127447600-127456400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:127447600-127456800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:127447800-127449800	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:127447800-127451200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr2:127447800-127451200	Strong transcription	Fetal Stomach	stomach

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