Variant report

Variant	rs6487931
Chromosome Location	chr12:30841200-30841201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30840558..30845484-chr12:30846630..30850252,8	K562	blood:
2	chr12:30840520..30843164-chr12:30846192..30848468,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10743725	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843794	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843797	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843798	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843803	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10843805	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051006	0.85[ASN][1000 genomes]
rs11051009	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051023	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051026	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051030	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051034	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051044	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051046	0.94[ASN][1000 genomes]
rs11610452	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12306961	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12308822	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12310942	0.94[ASN][1000 genomes]
rs12315407	0.80[AMR][1000 genomes]
rs12315446	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12371883	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372023	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2099028	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3906774	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56003450	0.85[ASN][1000 genomes]
rs56705455	0.80[AMR][1000 genomes]
rs59483134	0.91[ASN][1000 genomes]
rs6487924	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6487929	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7135005	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7302606	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7302757	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7303665	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7306125	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307432	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308638	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7310127	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7315859	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73292874	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs74083892	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7963438	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7963524	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968669	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968760	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7974251	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9651844	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30785000-30847800	Weak transcription	Gastric	stomach
4	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
5	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:30810800-30843200	Strong transcription	Dnd41	blood
7	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:30812600-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:30813200-30844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:30813600-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:30815400-30845800	Weak transcription	Fetal Brain Male	brain
13	chr12:30816200-30844000	Weak transcription	NHEK	skin
14	chr12:30816400-30844200	Weak transcription	NHLF	lung
15	chr12:30821600-30844200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:30821800-30847400	Weak transcription	Lung	lung
18	chr12:30822000-30846600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:30822600-30843800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:30822600-30845600	Weak transcription	Right Ventricle	heart
21	chr12:30822600-30846400	Weak transcription	Esophagus	oesophagus
22	chr12:30822600-30847400	Weak transcription	Aorta	Aorta
23	chr12:30822800-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:30826000-30845600	Weak transcription	Brain Germinal Matrix	brain
25	chr12:30827000-30847000	Weak transcription	Colonic Mucosa	Colon
26	chr12:30827800-30844200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:30828200-30844200	Weak transcription	K562	blood
28	chr12:30829200-30844200	Weak transcription	Pancreas	Pancrea
29	chr12:30829600-30844200	Weak transcription	Small Intestine	intestine
30	chr12:30830400-30844000	Weak transcription	HMEC	breast
31	chr12:30830400-30844200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr12:30830400-30846600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:30830600-30843000	Weak transcription	HSMMtube	muscle
34	chr12:30831800-30844200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:30831800-30845600	Weak transcription	Brain Substantia Nigra	brain
36	chr12:30831800-30845600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr12:30831800-30846400	Weak transcription	Thymus	Thymus
38	chr12:30831800-30846600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:30831800-30846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:30832000-30844200	Weak transcription	Left Ventricle	heart
41	chr12:30832000-30844200	Weak transcription	Ovary	ovary
42	chr12:30832200-30844200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:30832200-30846800	Weak transcription	Fetal Stomach	stomach
44	chr12:30832400-30845200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:30832600-30844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:30832600-30845600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:30833000-30845400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:30833200-30844200	Weak transcription	Adipose Nuclei	Adipose
49	chr12:30833200-30845400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:30833400-30845600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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