Variant report

Variant	rs17577431
Chromosome Location	chr2:39242151-39242152
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	chr2:39237020..39239213-chr2:39240112..39243107,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3770680	1.00[AMR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39205800-39242600	Weak transcription	Psoas Muscle	Psoas
2	chr2:39210400-39242600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:39210600-39242400	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:39211000-39247600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:39213400-39242200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:39213400-39242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:39213400-39251200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:39213400-39259800	Weak transcription	Right Ventricle	heart
9	chr2:39213800-39308000	Weak transcription	Pancreas	Pancrea
10	chr2:39217600-39242400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:39217600-39244200	Strong transcription	Primary B cells from cord blood	blood
12	chr2:39219000-39259200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:39219200-39244000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:39219400-39242600	Weak transcription	Brain Substantia Nigra	brain
15	chr2:39227600-39303400	Weak transcription	Colonic Mucosa	Colon
16	chr2:39229000-39251400	Weak transcription	Fetal Heart	heart
17	chr2:39229800-39293000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:39230200-39243600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:39231600-39244400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:39232200-39242800	Strong transcription	Liver	Liver
21	chr2:39232400-39242800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:39232600-39300000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:39235400-39249600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr2:39235400-39312000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:39235600-39247600	Weak transcription	HSMMtube	muscle
26	chr2:39235600-39251800	Weak transcription	NHEK	skin
27	chr2:39235600-39259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:39235600-39259800	Weak transcription	Spleen	Spleen
29	chr2:39235600-39293200	Weak transcription	Fetal Brain Male	brain
30	chr2:39235600-39295800	Weak transcription	NHLF	lung
31	chr2:39235600-39298200	Weak transcription	Small Intestine	intestine
32	chr2:39235600-39327800	Weak transcription	Esophagus	oesophagus
33	chr2:39235800-39249600	Weak transcription	Thymus	Thymus
34	chr2:39235800-39257800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:39235800-39284000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:39235800-39293600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:39236000-39247600	Weak transcription	Left Ventricle	heart
38	chr2:39236000-39249600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:39236000-39260000	Weak transcription	Hela-S3	cervix
40	chr2:39236000-39295600	Weak transcription	Aorta	Aorta
41	chr2:39236000-39295800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:39236000-39305600	Weak transcription	Gastric	stomach
43	chr2:39236200-39305600	Weak transcription	Lung	lung
44	chr2:39236400-39263400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr2:39236800-39242800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:39236800-39245600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:39237000-39260200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:39237600-39257600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr2:39237800-39249800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:39238400-39242200	Weak transcription	Ovary	ovary

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