Variant report

Variant	rs12478134
Chromosome Location	chr2:32240783-32240784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32234636..32237963-chr2:32240209..32242382,5	K562	blood:
2	chr2:32240605..32243269-chr2:32248249..32250550,2	K562	blood:
3	chr2:32233114..32237976-chr2:32240343..32247913,8	MCF-7	breast:
4	chr2:32240605..32244999-chr2:32247554..32251500,4	K562	blood:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction
ENSG00000162961	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11124272	0.86[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678119	0.82[CEU][hapmap]
rs11691939	1.00[CEU][hapmap];0.87[CHB][hapmap]
rs12614686	0.82[CEU][hapmap]
rs12991444	0.87[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.90[YRI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13006495	1.00[CEU][hapmap];0.91[CHB][hapmap]
rs13013695	0.91[CHB][hapmap];0.84[YRI][hapmap]
rs17011801	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes]
rs177082	1.00[CEU][hapmap]
rs212689	1.00[CEU][hapmap]
rs212751	1.00[CEU][hapmap];0.81[YRI][hapmap]
rs212754	1.00[CEU][hapmap]
rs212761	0.93[CEU][hapmap]
rs2280968	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2366547	0.87[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34197800	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[YRI][hapmap]
rs35196278	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs375050	1.00[CEU][hapmap]
rs3752916	0.83[CEU][hapmap]
rs3754835	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs3769602	0.82[CEU][hapmap]
rs3769605	0.93[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs3769611	0.90[YRI][hapmap]
rs3851310	0.83[CEU][hapmap]
rs462878	1.00[CEU][hapmap]
rs61399065	0.83[EUR][1000 genomes]
rs6723154	0.82[CEU][hapmap]
rs71446036	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7556942	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7572964	0.83[CEU][hapmap]
rs7574000	1.00[CEU][hapmap]

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	chr2:32236600-32243800	Weak transcription	Ovary	ovary
5	chr2:32236600-32244400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:32236600-32245000	Weak transcription	Left Ventricle	heart
7	chr2:32236600-32245200	Weak transcription	Fetal Brain Male	brain
8	chr2:32236600-32253400	Weak transcription	Esophagus	oesophagus
9	chr2:32236600-32261000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:32236600-32263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:32236600-32263800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:32236600-32263800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:32236600-32263800	Weak transcription	Psoas Muscle	Psoas
14	chr2:32236600-32264200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:32236600-32264200	Weak transcription	Right Atrium	heart
16	chr2:32236600-32264200	Weak transcription	Right Ventricle	heart
17	chr2:32236800-32240800	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:32236800-32241000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr2:32236800-32241400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:32236800-32241400	Weak transcription	Adipose Nuclei	Adipose
21	chr2:32236800-32242400	Weak transcription	Placenta	Placenta
22	chr2:32236800-32242600	Weak transcription	Brain Anterior Caudate	brain
23	chr2:32236800-32242800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:32236800-32242800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:32236800-32242800	Weak transcription	Fetal Lung	lung
26	chr2:32236800-32242800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:32236800-32242800	Weak transcription	Thymus	Thymus
28	chr2:32236800-32242800	Weak transcription	Osteobl	bone
29	chr2:32236800-32244600	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:32236800-32245200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:32236800-32245200	Weak transcription	Aorta	Aorta
32	chr2:32236800-32245400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:32236800-32247800	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:32236800-32248000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:32236800-32248200	Weak transcription	HSMM	muscle
36	chr2:32236800-32250800	Weak transcription	NH-A	brain
37	chr2:32236800-32251600	Weak transcription	Stomach Mucosa	stomach
38	chr2:32236800-32253200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:32236800-32258800	Weak transcription	Fetal Kidney	kidney
40	chr2:32236800-32263000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:32236800-32263800	Weak transcription	Small Intestine	intestine
42	chr2:32236800-32264000	Weak transcription	Brain Angular Gyrus	brain
43	chr2:32236800-32264000	Weak transcription	Fetal Heart	heart
44	chr2:32236800-32264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr2:32236800-32264000	Weak transcription	HSMMtube	muscle
46	chr2:32237000-32241400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:32237000-32241400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:32237000-32241400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:32237000-32241600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:32237000-32242400	Weak transcription	Rectal Mucosa Donor 29	rectum

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