Variant report

Variant	rs2765886
Chromosome Location	chr1:92154020-92154021
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	chr1:92148164..92151549-chr1:92152320..92156969,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10157887	1.00[CEU][hapmap]
rs10874909	1.00[CEU][hapmap]
rs12065370	1.00[CEU][hapmap]
rs17131541	1.00[CEU][hapmap]
rs7535912	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr1:92143800-92154200	Weak transcription	Aorta	Aorta
2	chr1:92145200-92159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:92146600-92157000	Weak transcription	Fetal Brain Male	brain
4	chr1:92146800-92163000	Weak transcription	Hela-S3	cervix
5	chr1:92147400-92164600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92148400-92154800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:92148600-92154400	Genic enhancers	NHDF-Ad	bronchial
8	chr1:92148600-92154600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:92148600-92155000	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:92149000-92170000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:92149200-92155400	Enhancers	Fetal Lung	lung
12	chr1:92149400-92155600	Weak transcription	Pancreas	Pancrea
13	chr1:92149400-92159000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:92149400-92172800	Weak transcription	Esophagus	oesophagus
15	chr1:92149600-92166000	Weak transcription	NHEK	skin
16	chr1:92150200-92155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:92150400-92154200	Weak transcription	Liver	Liver
18	chr1:92150400-92155000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:92150400-92158800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:92150400-92162600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:92150600-92154400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:92150600-92154600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:92150600-92159000	Weak transcription	Osteobl	bone
24	chr1:92150800-92154400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:92150800-92154400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:92150800-92154600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:92150800-92154800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:92150800-92158000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:92150800-92158600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:92150800-92159000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:92150800-92159000	Weak transcription	Stomach Mucosa	stomach
32	chr1:92150800-92160400	Weak transcription	K562	blood
33	chr1:92151000-92155000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:92151200-92162400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:92151200-92164200	Weak transcription	Right Ventricle	heart
36	chr1:92151200-92172800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:92151400-92154400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:92151400-92155400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:92151400-92159000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:92151400-92162200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:92151600-92154200	Weak transcription	Fetal Kidney	kidney
42	chr1:92151600-92161800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:92151600-92162200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:92151600-92162200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:92151800-92154200	Weak transcription	Lung	lung
46	chr1:92151800-92154600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:92151800-92154800	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:92151800-92158200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:92151800-92162400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:92152000-92154200	Genic enhancers	Adipose Nuclei	Adipose

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