Variant report

Variant	rs3731752
Chromosome Location	chr2:179398509-179398510
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:179343546..179345499-chr2:179398217..179400353,2	K562	blood:
2	chr2:179395497..179400266-chr2:179412543..179417721,4	K562	blood:
3	chr2:179336273..179338307-chr2:179397796..179400668,2	K562	blood:
4	chr2:179386919..179391089-chr2:179391647..179398872,11	K562	blood:

Variant related genes	Relation type
ENSG00000237298	Chromatin interaction
ENSG00000270277	Chromatin interaction
ENSG00000116095	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10515939	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866380	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16866412	0.84[ASW][hapmap];1.00[GIH][hapmap];0.82[YRI][hapmap]
rs16866423	1.00[GIH][hapmap]
rs2115558	0.84[ASW][hapmap];1.00[GIH][hapmap];0.82[YRI][hapmap]
rs2278196	1.00[ASW][hapmap];1.00[CEU][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2288324	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3731744	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3813243	1.00[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3829749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62176135	0.86[EUR][1000 genomes]
rs72646841	0.96[ASN][1000 genomes]
rs72648270	0.95[EUR][1000 genomes];0.81[ASN][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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv834468	chr2:179351116-179533625	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522036	chr2:179395760-179398509	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 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	chr2:179388800-179403600	Weak transcription	Esophagus	oesophagus
2	chr2:179388800-179408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:179388800-179408600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:179388800-179410600	Weak transcription	Colonic Mucosa	Colon
5	chr2:179388800-179411800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:179388800-179417600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:179388800-179429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:179388800-179441800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:179388800-179448800	Weak transcription	Small Intestine	intestine
10	chr2:179388800-179495800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr2:179389200-179412600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:179389400-179398800	Weak transcription	HUVEC	blood vessel
13	chr2:179389400-179399000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:179389400-179401600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:179389400-179404000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:179389400-179404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:179389400-179405800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:179389400-179408200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr2:179389400-179408800	Weak transcription	HMEC	breast
20	chr2:179389400-179410000	Weak transcription	Hela-S3	cervix
21	chr2:179389400-179412800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:179389400-179413000	Weak transcription	Fetal Brain Male	brain
23	chr2:179389400-179413400	Weak transcription	NH-A	brain
24	chr2:179389400-179416800	Weak transcription	Stomach Mucosa	stomach
25	chr2:179389400-179417200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:179389400-179417200	Weak transcription	NHDF-Ad	bronchial
27	chr2:179389400-179417200	Weak transcription	NHLF	lung
28	chr2:179389400-179428200	Weak transcription	Rectal Smooth Muscle	rectum
29	chr2:179390600-179426400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:179391200-179419200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:179393600-179398800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:179393800-179439800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:179394800-179412600	Strong transcription	Primary T cells from cord blood	blood
34	chr2:179394800-179413400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:179394800-179417600	Strong transcription	HSMMtube	muscle
36	chr2:179394800-179421600	Strong transcription	Left Ventricle	heart
37	chr2:179395400-179401000	Strong transcription	Fetal Stomach	stomach
38	chr2:179395400-179414200	Strong transcription	Fetal Thymus	thymus
39	chr2:179395400-179423000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr2:179395600-179400600	Strong transcription	Fetal Intestine Small	intestine
41	chr2:179395600-179414200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:179395600-179421600	Strong transcription	Fetal Heart	heart
43	chr2:179395800-179399400	Strong transcription	K562	blood
44	chr2:179395800-179399800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:179395800-179399800	Strong transcription	Placenta	Placenta
46	chr2:179395800-179400800	Strong transcription	Aorta	Aorta
47	chr2:179395800-179402400	Strong transcription	Lung	lung
48	chr2:179395800-179411800	Strong transcription	Fetal Muscle Leg	muscle
49	chr2:179395800-179414000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:179395800-179414200	Strong transcription	Dnd41	blood

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