Variant report

Variant	rs61748253
Chromosome Location	chr2:183616398-183616399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:183615854..183617746-chr2:183618708..183621163,2	K562	blood:
2	chr2:183616174..183617713-chr2:183625030..183626585,2	MCF-7	breast:
3	chr2:183615250..183618246-chr2:183622533..183624342,2	K562	blood:

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

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

rs_ID	r²[population]
rs35931221	1.00[ASN][1000 genomes]
rs61748252	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72900782	1.00[ASN][1000 genomes]
rs73046489	1.00[ASN][1000 genomes]
rs934263	1.00[ASN][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
7	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv10204	chr2:183609768-183639750	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183581800-183622600	Weak transcription	Colonic Mucosa	Colon
2	chr2:183581800-183631000	Weak transcription	Esophagus	oesophagus
3	chr2:183581800-183647600	Weak transcription	Gastric	stomach
4	chr2:183581800-183655600	Weak transcription	Pancreas	Pancrea
5	chr2:183582600-183624400	Weak transcription	Stomach Mucosa	stomach
6	chr2:183588600-183624200	Weak transcription	Small Intestine	intestine
7	chr2:183591400-183622600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:183601600-183620000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:183602600-183622600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:183602600-183624200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:183603200-183622400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:183605600-183646000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:183606000-183622800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:183606000-183624200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:183607200-183622600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:183607200-183638800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:183608000-183621400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:183608000-183622800	Weak transcription	Thymus	Thymus
19	chr2:183608000-183624200	Weak transcription	Fetal Stomach	stomach
20	chr2:183608000-183628200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:183609000-183646600	Weak transcription	Hela-S3	cervix
22	chr2:183609600-183622800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr2:183610000-183638800	Weak transcription	Lung	lung
24	chr2:183610200-183616400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:183610200-183616400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:183610200-183616400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:183610200-183616400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:183610200-183616400	Weak transcription	Left Ventricle	heart
29	chr2:183610200-183620800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:183610200-183621000	Weak transcription	HSMMtube	muscle
31	chr2:183610200-183622400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:183610200-183622600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:183610200-183622600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:183610200-183623800	Weak transcription	Psoas Muscle	Psoas
35	chr2:183610200-183624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr2:183610200-183624400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:183610200-183624400	Weak transcription	Aorta	Aorta
38	chr2:183610200-183626000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:183610200-183626600	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:183610200-183628400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:183610200-183631400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:183610200-183633200	Weak transcription	Spleen	Spleen
43	chr2:183610200-183639000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:183610400-183616400	Weak transcription	HUVEC	blood vessel
45	chr2:183610400-183620600	Weak transcription	Placenta	Placenta
46	chr2:183610400-183621000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:183610400-183621000	Weak transcription	NHLF	lung
48	chr2:183610400-183622800	Weak transcription	Brain Angular Gyrus	brain
49	chr2:183610600-183616600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:183610800-183616400	Weak transcription	Muscle Satellite Cultured Cells	--

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