Variant report

Variant	rs74108840
Chromosome Location	chr12:75903739-75903740
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75901516..75903864-chr12:75903925..75905942,3	MCF-7	breast:
2	chr12:75895269..75897744-chr12:75903455..75905180,2	MCF-7	breast:
3	chr12:75897120..75901453-chr12:75903276..75905265,4	MCF-7	breast:
4	chr12:75722764..75725346-chr12:75903212..75905334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180881	Chromatin interaction
ENSG00000111615	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11366	0.89[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60941260	1.00[AMR][1000 genomes]
rs61087380	1.00[AMR][1000 genomes]
rs7313298	1.00[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]
rs74108812	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	1.00[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	0.81[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	0.93[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv470305	chr12:75896688-75987360	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr12:75880600-75903800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:75883800-75904800	Weak transcription	Esophagus	oesophagus
3	chr12:75888800-75903800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:75888800-75904200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:75891400-75903800	Weak transcription	Fetal Brain Male	brain
6	chr12:75892800-75904400	Weak transcription	Gastric	stomach
7	chr12:75895400-75903800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:75895400-75903800	Weak transcription	Brain Substantia Nigra	brain
9	chr12:75895400-75904000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:75895400-75904200	Weak transcription	Right Ventricle	heart
11	chr12:75895400-75904400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:75895400-75904600	Weak transcription	Lung	lung
13	chr12:75895600-75904000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:75895800-75904800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:75896200-75904000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:75896400-75903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:75896400-75904000	Weak transcription	Fetal Heart	heart
18	chr12:75897000-75904000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:75897000-75904600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:75897200-75903800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:75897400-75903800	Weak transcription	Brain Germinal Matrix	brain
22	chr12:75897400-75904000	Weak transcription	Aorta	Aorta
23	chr12:75897600-75904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr12:75897600-75904800	Weak transcription	Spleen	Spleen
25	chr12:75897800-75904000	Weak transcription	Colonic Mucosa	Colon
26	chr12:75897800-75904600	Weak transcription	Left Ventricle	heart
27	chr12:75897800-75904800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:75898000-75903800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:75899600-75903800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:75899600-75903800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:75900000-75904400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:75900200-75903800	Weak transcription	HSMMtube	muscle
33	chr12:75900400-75904600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:75900800-75903800	Weak transcription	Fetal Lung	lung
35	chr12:75900800-75904400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:75900800-75904400	Weak transcription	Placenta	Placenta
37	chr12:75901600-75903800	Enhancers	Osteobl	bone
38	chr12:75901800-75903800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:75901800-75903800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr12:75901800-75904200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr12:75902200-75903800	Enhancers	Liver	Liver
42	chr12:75902200-75903800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:75902200-75904000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr12:75902400-75903800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr12:75902400-75904000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:75902600-75903800	Weak transcription	Adipose Nuclei	Adipose
47	chr12:75902600-75903800	Enhancers	NHDF-Ad	bronchial
48	chr12:75902600-75904400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr12:75902800-75903800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:75902800-75903800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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