Variant report

Variant	rs2470385
Chromosome Location	chr12:56982290-56982291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56979649..56982527-chr12:57037588..57039465,3	K562	blood:

Variant related genes	Relation type
ENSG00000110955	Chromatin interaction
ENSG00000207031	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11171910	0.83[GIH][hapmap]
rs12312913	0.83[GIH][hapmap]
rs12314491	0.83[GIH][hapmap]
rs17118865	0.83[GIH][hapmap]
rs2030909	1.00[TSI][hapmap]
rs7307578	0.83[GIH][hapmap]
rs7974103	0.83[GIH][hapmap]
rs7977632	0.83[GIH][hapmap]
rs941210	0.83[GIH][hapmap]

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	nsv899106	chr12:56905558-57004668	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv526706	chr12:56961932-56988342	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1043992	chr12:56976326-57010458	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56954600-56993400	Weak transcription	Fetal Brain Male	brain
2	chr12:56960000-56987600	Weak transcription	Fetal Heart	heart
3	chr12:56964000-56987800	Weak transcription	Right Atrium	heart
4	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
5	chr12:56965400-56983600	Strong transcription	Fetal Intestine Small	intestine
6	chr12:56972200-56985000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:56972400-56982800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:56972800-56985400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:56973800-56990600	Weak transcription	Psoas Muscle	Psoas
10	chr12:56975800-56982400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:56975800-56991600	Weak transcription	Small Intestine	intestine
12	chr12:56976000-56984800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:56976000-56990600	Weak transcription	GM12878-XiMat	blood
14	chr12:56976200-56989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:56976200-56989600	Weak transcription	Colonic Mucosa	Colon
16	chr12:56976200-56991000	Weak transcription	HepG2	liver
17	chr12:56976400-56990800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr12:56976600-56990800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:56976800-56990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:56976800-56990800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr12:56977000-56986800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
23	chr12:56978000-56987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:56978200-56990600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:56978600-56983400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:56978800-56984200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:56979000-56984400	Strong transcription	HUVEC	blood vessel
28	chr12:56979200-56983400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:56979600-56983800	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:56979600-56989200	Weak transcription	Primary B cells from cord blood	blood
31	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
32	chr12:56979800-56990800	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:56980000-56983000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:56980400-56982800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:56980400-56985600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:56980600-56982600	Strong transcription	Brain Inferior Temporal Lobe	brain
37	chr12:56980600-56982800	Strong transcription	Gastric	stomach
38	chr12:56980600-56983600	Strong transcription	Brain Anterior Caudate	brain
39	chr12:56980600-56984000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr12:56980600-56984600	Strong transcription	Colon Smooth Muscle	Colon
41	chr12:56980600-56984600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:56980600-56984800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:56980600-56984800	Strong transcription	Ovary	ovary
44	chr12:56980600-56985800	Strong transcription	Placenta Amnion	Placenta Amnion
45	chr12:56980800-56982600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr12:56980800-56982600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:56980800-56982800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:56980800-56983000	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:56980800-56983600	Strong transcription	Fetal Intestine Large	intestine
50	chr12:56980800-56984600	Strong transcription	Aorta	Aorta

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