Variant report

Variant	rs848539
Chromosome Location	chr2:36714723-36714724
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	chr2:36712172..36714860-chr2:36716725..36718248,2	K562	blood:
2	chr2:36708521..36710689-chr2:36714441..36716853,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10490671	0.89[CHB][hapmap]
rs2023408	0.89[CHB][hapmap]
rs2888369	0.89[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs3770827	0.84[CHB][hapmap]
rs3770834	0.90[CHB][hapmap]
rs3770841	0.94[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs4141686	0.85[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs4670563	0.85[ASN][1000 genomes]
rs848519	0.89[CHB][hapmap]
rs848528	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs848529	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs848543	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs867701	0.84[CHB][hapmap]
rs884216	0.84[CHB][hapmap]
rs955602	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv581468	chr2:36687111-36715689	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases
4	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36688600-36725600	Weak transcription	Small Intestine	intestine
2	chr2:36703200-36717200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:36704400-36716200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
6	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:36707400-36716400	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:36707600-36716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:36707600-36717000	Weak transcription	Brain Angular Gyrus	brain
10	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:36708800-36720800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:36709000-36719600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
17	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
21	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:36711200-36717400	Enhancers	Rectal Smooth Muscle	rectum
23	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:36711400-36715600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
28	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
29	chr2:36711600-36716400	Genic enhancers	Hela-S3	cervix
30	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:36711800-36717200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:36711800-36717600	Weak transcription	Lung	lung
33	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:36712000-36715200	Enhancers	Fetal Heart	heart
35	chr2:36712000-36715200	Enhancers	NHLF	lung
36	chr2:36712000-36715400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:36712000-36715800	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr2:36712000-36717200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:36712000-36720000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:36712000-36726400	Weak transcription	Spleen	Spleen
42	chr2:36712000-36726600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:36712000-36726600	Weak transcription	Gastric	stomach
44	chr2:36712400-36715400	Enhancers	Fetal Kidney	kidney
45	chr2:36712400-36718400	Enhancers	HSMMtube	muscle
46	chr2:36712600-36714800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:36712600-36714800	Enhancers	Adipose Nuclei	Adipose
48	chr2:36712600-36714800	Enhancers	Fetal Lung	lung
49	chr2:36712600-36714800	Enhancers	NHDF-Ad	bronchial
50	chr2:36712600-36715000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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