Variant report

Variant	rs74108812
Chromosome Location	chr12:75882711-75882712
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75879283..75886841-chr12:75892353..75898321,9	K562	blood:
2	chr12:75831490..75832014-chr12:75882346..75883009,3	MCF-7	breast:
3	chr12:75784497..75785473-chr12:75882163..75882970,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111615	Chromatin interaction
ENSG00000180881	Chromatin interaction
ENSG00000180481	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11366	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55838537	1.00[AMR][1000 genomes]
rs55862053	1.00[AMR][1000 genomes]
rs55938346	1.00[AMR][1000 genomes]
rs56198554	1.00[AMR][1000 genomes]
rs56242432	1.00[AMR][1000 genomes]
rs57417036	1.00[AMR][1000 genomes]
rs57936468	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60941260	1.00[AMR][1000 genomes]
rs61087380	1.00[AMR][1000 genomes]
rs7313298	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108714	1.00[AMR][1000 genomes]
rs74108721	1.00[AMR][1000 genomes]
rs74108729	1.00[AMR][1000 genomes]
rs74108751	1.00[AMR][1000 genomes]
rs74108752	1.00[AMR][1000 genomes]
rs74108753	1.00[AMR][1000 genomes]
rs74108755	1.00[AMR][1000 genomes]
rs74108756	1.00[AMR][1000 genomes]
rs74108760	1.00[AMR][1000 genomes]
rs74108761	1.00[AMR][1000 genomes]
rs74108762	1.00[AMR][1000 genomes]
rs74108767	1.00[AMR][1000 genomes]
rs74108768	1.00[AMR][1000 genomes]
rs74108773	1.00[AMR][1000 genomes]
rs74108775	1.00[AMR][1000 genomes]
rs74108779	1.00[AMR][1000 genomes]
rs74108787	1.00[AMR][1000 genomes]
rs74108788	1.00[AMR][1000 genomes]
rs74108791	1.00[AMR][1000 genomes]
rs74108803	1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108833	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108840	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108903	1.00[AMR][1000 genomes]
rs74109586	1.00[AMR][1000 genomes]
rs74109587	1.00[AMR][1000 genomes]
rs74109588	1.00[AMR][1000 genomes]
rs74109589	1.00[AMR][1000 genomes]
rs74109591	1.00[AMR][1000 genomes]
rs74109592	1.00[AMR][1000 genomes]
rs74109593	1.00[AMR][1000 genomes]
rs74109746	1.00[AMR][1000 genomes]
rs74109747	1.00[AMR][1000 genomes]
rs74109748	1.00[AMR][1000 genomes]
rs74109749	1.00[AMR][1000 genomes]
rs74109754	1.00[AMR][1000 genomes]
rs74109755	1.00[AMR][1000 genomes]
rs74109756	1.00[AMR][1000 genomes]
rs74109757	1.00[AMR][1000 genomes]
rs74109762	1.00[AMR][1000 genomes]
rs74109764	1.00[AMR][1000 genomes]
rs74109768	1.00[AMR][1000 genomes]
rs74109770	1.00[AMR][1000 genomes]
rs74109771	1.00[AMR][1000 genomes]
rs74109772	1.00[AMR][1000 genomes]
rs74109773	1.00[AMR][1000 genomes]
rs74109774	1.00[AMR][1000 genomes]
rs74109776	1.00[AMR][1000 genomes]
rs74109780	1.00[AMR][1000 genomes]
rs74109781	1.00[AMR][1000 genomes]
rs74109782	1.00[AMR][1000 genomes]
rs74109785	1.00[AMR][1000 genomes]
rs74109786	1.00[AMR][1000 genomes]
rs74109787	1.00[AMR][1000 genomes]
rs74109789	1.00[AMR][1000 genomes]
rs74109790	1.00[AMR][1000 genomes]
rs74110939	1.00[AMR][1000 genomes]
rs74110940	1.00[AMR][1000 genomes]
rs74110945	1.00[AMR][1000 genomes]
rs74110966	1.00[AMR][1000 genomes]
rs74110967	1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112439	1.00[AMR][1000 genomes]
rs74112440	1.00[AMR][1000 genomes]
rs74112441	1.00[AMR][1000 genomes]
rs74112442	1.00[AMR][1000 genomes]
rs74112443	1.00[AMR][1000 genomes]
rs74112444	1.00[AMR][1000 genomes]
rs74112446	1.00[AMR][1000 genomes]
rs7954292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75874800-75895000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:75875400-75887800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:75875600-75890200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:75875600-75903400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:75875800-75882800	Weak transcription	NHEK	skin
6	chr12:75875800-75883600	Weak transcription	Esophagus	oesophagus
7	chr12:75875800-75886600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:75875800-75886800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:75875800-75888800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr12:75875800-75892400	Weak transcription	K562	blood
11	chr12:75875800-75892600	Weak transcription	Brain Angular Gyrus	brain
12	chr12:75875800-75894400	Weak transcription	Colonic Mucosa	Colon
13	chr12:75875800-75903000	Weak transcription	Small Intestine	intestine
14	chr12:75875800-75903600	Weak transcription	Fetal Intestine Small	intestine
15	chr12:75876200-75885000	Weak transcription	Liver	Liver
16	chr12:75876200-75903400	Weak transcription	Fetal Stomach	stomach
17	chr12:75876400-75883600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:75876400-75886800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:75876400-75889800	Weak transcription	Lung	lung
20	chr12:75876400-75891400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:75876400-75894400	Weak transcription	Ovary	ovary
22	chr12:75876600-75883200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:75876800-75889800	Weak transcription	Left Ventricle	heart
24	chr12:75876800-75889800	Weak transcription	Thymus	Thymus
25	chr12:75876800-75890400	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:75876800-75895000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:75877600-75886600	Weak transcription	Fetal Thymus	thymus
28	chr12:75877600-75889000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr12:75877800-75883200	Weak transcription	HSMMtube	muscle
30	chr12:75877800-75889000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:75877800-75889200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:75877800-75890200	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:75878200-75883000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:75878400-75882800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr12:75878400-75887200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr12:75878400-75890600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:75878600-75883200	Genic enhancers	Primary monocytes fromperipheralblood	blood
38	chr12:75879000-75883400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:75879000-75886600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr12:75879000-75890000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:75879000-75890800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr12:75879200-75882800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:75879200-75888600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:75879200-75888800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr12:75879200-75890600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:75879200-75892400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:75879200-75894400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:75879200-75900600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:75879600-75883200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:75879800-75902000	Strong transcription	Primary B cells from cord blood	blood

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