Variant report

Variant	rs12111173
Chromosome Location	chr6:161860424-161860425
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
2	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
3	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
4	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12111180	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55785515	1.00[EUR][1000 genomes]
rs55935751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56184895	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6901754	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6901962	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920968	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6923642	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73785918	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7745030	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9456671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9458254	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1031234	chr6:161676768-162250726	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv886819	chr6:161712035-162520133	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv886820	chr6:161712880-162184932	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv830854	chr6:161739926-161927515	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv518931	chr6:161793319-162406335	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv481861	chr6:161802883-162160197	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1024921	chr6:161814295-161860636	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2761040	chr6:161814307-161860636	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1018466	chr6:161816661-161860636	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1023319	chr6:161817703-161860636	Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv481981	chr6:161829077-162215745	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1015211	chr6:161836242-161860636	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	nsv1033603	chr6:161844266-162001436	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv481750	chr6:161850976-161996586	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161855600-161864400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:161856000-161861600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:161856600-161866200	Weak transcription	Psoas Muscle	Psoas
4	chr6:161856800-161861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:161857800-161863400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:161858400-161862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:161859400-161860600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:161859800-161860600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:161859800-161860600	Active TSS	Brain Substantia Nigra	brain
10	chr6:161859800-161860600	Flanking Active TSS	HSMMtube	muscle
11	chr6:161859800-161860600	Flanking Active TSS	NHDF-Ad	bronchial
12	chr6:161859800-161860800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr6:161859800-161860800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:161859800-161860800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:161860000-161860600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr6:161860000-161860600	Active TSS	Brain Angular Gyrus	brain
17	chr6:161860000-161860600	Active TSS	Brain Hippocampus Middle	brain
18	chr6:161860000-161860600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr6:161860000-161860600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:161860000-161860600	Flanking Active TSS	Fetal Kidney	kidney
21	chr6:161860000-161860600	Enhancers	Fetal Muscle Trunk	muscle
22	chr6:161860000-161860600	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:161860000-161860600	Active TSS	Rectal Smooth Muscle	rectum
24	chr6:161860000-161860600	Active TSS	Right Atrium	heart
25	chr6:161860000-161860600	Active TSS	A549	lung
26	chr6:161860000-161860600	Flanking Active TSS	HMEC	breast
27	chr6:161860000-161860600	Enhancers	HUVEC	blood vessel
28	chr6:161860000-161860800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr6:161860000-161860800	Active TSS	Adipose Nuclei	Adipose
30	chr6:161860000-161860800	Active TSS	Brain Cingulate Gyrus	brain
31	chr6:161860000-161860800	Flanking Active TSS	Fetal Brain Female	brain
32	chr6:161860000-161860800	Enhancers	Fetal Muscle Leg	muscle
33	chr6:161860000-161860800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr6:161860000-161860800	Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr6:161860000-161860800	Flanking Bivalent TSS/Enh	K562	blood
36	chr6:161860000-161862000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:161860200-161860600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:161860200-161860600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:161860200-161860600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:161860200-161860600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr6:161860200-161860600	Active TSS	Brain Anterior Caudate	brain
42	chr6:161860200-161860600	Active TSS	Brain Germinal Matrix	brain
43	chr6:161860200-161860600	Enhancers	Colon Smooth Muscle	Colon
44	chr6:161860200-161860600	Enhancers	Fetal Brain Male	brain
45	chr6:161860200-161860600	Enhancers	Ovary	ovary
46	chr6:161860200-161860600	Active TSS	Osteobl	bone
47	chr6:161860200-161860800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr6:161860400-161860600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:161860400-161860600	Enhancers	Placenta	Placenta
50	chr6:161860400-161860600	Enhancers	Fetal Stomach	stomach

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