Variant report

Variant	rs74095006
Chromosome Location	chr12:56981279-56981280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56972867..56975335-chr12:56976373..56981711,6	K562	blood:
2	chr12:56979662..56981852-chr12:56983411..56984934,2	K562	blood:
3	chr12:56972892..56975335-chr12:56979018..56981711,3	K562	blood:
4	chr12:56979649..56982527-chr12:57037588..57039465,3	K562	blood:
5	chr12:56907736..56909247-chr12:56979729..56982080,2	K562	blood:
6	chr12:56980057..56982231-chr12:56987671..56989333,2	K562	blood:

Variant related genes	Relation type
ENSG00000207031	Chromatin interaction
ENSG00000110955	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60617245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095005	1.00[AFR][1000 genomes]
rs74095008	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095009	1.00[AFR][1000 genomes];1.00[AMR][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	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	chr12:56959800-56981400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:56960000-56987600	Weak transcription	Fetal Heart	heart
4	chr12:56964000-56987800	Weak transcription	Right Atrium	heart
5	chr12:56964200-56992600	Weak transcription	Stomach Mucosa	stomach
6	chr12:56965400-56983600	Strong transcription	Fetal Intestine Small	intestine
7	chr12:56968600-56981400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr12:56972200-56985000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:56972400-56982800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:56972800-56985400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:56973800-56990600	Weak transcription	Psoas Muscle	Psoas
12	chr12:56975800-56982400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:56975800-56991600	Weak transcription	Small Intestine	intestine
14	chr12:56976000-56984800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:56976000-56990600	Weak transcription	GM12878-XiMat	blood
16	chr12:56976200-56989600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr12:56976200-56989600	Weak transcription	Colonic Mucosa	Colon
18	chr12:56976200-56991000	Weak transcription	HepG2	liver
19	chr12:56976400-56981400	Weak transcription	Primary T cells from cord blood	blood
20	chr12:56976400-56990800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr12:56976600-56981400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr12:56976600-56990800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:56976800-56981600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:56976800-56990200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr12:56976800-56990800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr12:56977000-56981600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr12:56977000-56986800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:56977200-56981600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:56977600-57017000	Strong transcription	Placenta	Placenta
30	chr12:56978000-56987000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:56978200-56990600	Weak transcription	Primary B cells from peripheral blood	blood
32	chr12:56978600-56983400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:56978800-56984200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:56979000-56984400	Strong transcription	HUVEC	blood vessel
35	chr12:56979200-56983400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:56979600-56983800	Strong transcription	Fetal Muscle Leg	muscle
37	chr12:56979600-56989200	Weak transcription	Primary B cells from cord blood	blood
38	chr12:56979600-57020400	Strong transcription	Fetal Stomach	stomach
39	chr12:56979800-56990800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:56980000-56983000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:56980400-56982800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:56980400-56985600	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:56980600-56982600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr12:56980600-56982800	Strong transcription	Gastric	stomach
45	chr12:56980600-56983600	Strong transcription	Brain Anterior Caudate	brain
46	chr12:56980600-56984000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:56980600-56984600	Strong transcription	Colon Smooth Muscle	Colon
48	chr12:56980600-56984600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:56980600-56984800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:56980600-56984800	Strong transcription	Ovary	ovary

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