Variant report

Variant	rs806149
Chromosome Location	chr2:32243905-32243906
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32233114..32237976-chr2:32240343..32247913,8	MCF-7	breast:
2	chr2:32240605..32244999-chr2:32247554..32251500,4	K562	blood:

Variant related genes	Relation type
ENSG00000162961	Chromatin interaction
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11682335	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13403364	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs160793	1.00[AMR][1000 genomes]
rs191961	1.00[AMR][1000 genomes]
rs2116030	0.88[EUR][1000 genomes]
rs216536	0.83[AFR][1000 genomes]
rs223663	1.00[AMR][1000 genomes]
rs483796	0.81[EUR][1000 genomes]
rs486754	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs490226	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs502824	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs533970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs552555	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs559693	1.00[AMR][1000 genomes]
rs591625	0.94[EUR][1000 genomes]
rs624859	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs631826	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs648652	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6543650	0.81[EUR][1000 genomes]
rs7600278	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32236400-32245000	Weak transcription	Lung	lung
2	chr2:32236400-32250800	Weak transcription	Spleen	Spleen
3	chr2:32236400-32264200	Weak transcription	Gastric	stomach
4	chr2:32236600-32244400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:32236600-32245000	Weak transcription	Left Ventricle	heart
6	chr2:32236600-32245200	Weak transcription	Fetal Brain Male	brain
7	chr2:32236600-32253400	Weak transcription	Esophagus	oesophagus
8	chr2:32236600-32261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:32236600-32263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:32236600-32263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:32236600-32263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:32236600-32263800	Weak transcription	Psoas Muscle	Psoas
13	chr2:32236600-32264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:32236600-32264200	Weak transcription	Right Atrium	heart
15	chr2:32236600-32264200	Weak transcription	Right Ventricle	heart
16	chr2:32236800-32244600	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:32236800-32245200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:32236800-32245200	Weak transcription	Aorta	Aorta
19	chr2:32236800-32245400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr2:32236800-32247800	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:32236800-32248000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:32236800-32248200	Weak transcription	HSMM	muscle
23	chr2:32236800-32250800	Weak transcription	NH-A	brain
24	chr2:32236800-32251600	Weak transcription	Stomach Mucosa	stomach
25	chr2:32236800-32253200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr2:32236800-32258800	Weak transcription	Fetal Kidney	kidney
27	chr2:32236800-32263000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr2:32236800-32263800	Weak transcription	Small Intestine	intestine
29	chr2:32236800-32264000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:32236800-32264000	Weak transcription	Fetal Heart	heart
31	chr2:32236800-32264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:32236800-32264000	Weak transcription	HSMMtube	muscle
33	chr2:32237000-32244000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:32237000-32244000	Weak transcription	NHEK	skin
35	chr2:32237000-32244200	Weak transcription	HMEC	breast
36	chr2:32237000-32245000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr2:32237000-32245200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:32237000-32245200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:32237000-32245200	Weak transcription	NHLF	lung
40	chr2:32237000-32247800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr2:32237000-32248000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:32237000-32248200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:32237000-32248200	Weak transcription	HUVEC	blood vessel
44	chr2:32237000-32250800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr2:32237000-32251200	Weak transcription	Colonic Mucosa	Colon
46	chr2:32237000-32259600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr2:32237000-32262000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr2:32237000-32263600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr2:32237000-32263800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:32237000-32263800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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