Variant report

Variant	rs12111442
Chromosome Location	chr6:142695276-142695277
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142623095..142627464-chr6:142695015..142699315,6	MCF-7	breast:
2	chr6:142621770..142624085-chr6:142694807..142697859,4	MCF-7	breast:
3	chr6:142693095..142695655-chr6:142695797..142698299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11968056	0.91[ASN][1000 genomes]
rs12110403	1.00[EUR][1000 genomes]
rs35699755	1.00[ASN][1000 genomes]
rs58618846	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61179412	0.97[ASN][1000 genomes]
rs723990	1.00[EUR][1000 genomes]
rs73580445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73580447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9484621	0.91[ASN][1000 genomes]
rs9496378	1.00[CHB][hapmap]
rs9942441	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949088	chr6:142561402-143128849	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv830825	chr6:142585242-142752575	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142689400-142696000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr6:142692000-142695600	Weak transcription	Fetal Lung	lung
3	chr6:142692800-142696200	Enhancers	HUVEC	blood vessel
4	chr6:142693000-142696200	Enhancers	NHEK	skin
5	chr6:142693200-142696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:142693200-142700000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:142693200-142700200	Enhancers	HMEC	breast
8	chr6:142693200-142700600	Enhancers	Hela-S3	cervix
9	chr6:142693400-142696200	Enhancers	Fetal Intestine Large	intestine
10	chr6:142693400-142696600	Enhancers	Fetal Intestine Small	intestine
11	chr6:142693600-142695400	Enhancers	Small Intestine	intestine
12	chr6:142693600-142696200	Enhancers	Liver	Liver
13	chr6:142693800-142695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:142693800-142696400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:142694000-142695400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr6:142694000-142695400	Weak transcription	NH-A	brain
17	chr6:142694000-142695600	Weak transcription	Placenta	Placenta
18	chr6:142694000-142695600	Weak transcription	HSMMtube	muscle
19	chr6:142694000-142696000	Weak transcription	NHDF-Ad	bronchial
20	chr6:142694000-142696000	Weak transcription	Osteobl	bone
21	chr6:142694000-142698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:142694000-142699600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:142694200-142695600	Weak transcription	Fetal Kidney	kidney
24	chr6:142694200-142695800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr6:142694400-142695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:142694400-142695400	Weak transcription	HSMM	muscle
27	chr6:142694400-142696200	Weak transcription	NHLF	lung
28	chr6:142694400-142696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:142694600-142695800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr6:142694600-142696000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:142694800-142695400	Enhancers	HepG2	liver
32	chr6:142694800-142696200	Weak transcription	Stomach Mucosa	stomach
33	chr6:142694800-142696400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:142694800-142699200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr6:142695000-142696600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:142695000-142698400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:142695200-142695400	Enhancers	Duodenum Mucosa	Duodenum
38	chr6:142695200-142695800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:142695200-142695800	Flanking Active TSS	A549	lung
40	chr6:142695200-142696000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr6:142695200-142696600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr6:142695200-142696600	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr6:142695200-142696600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr6:142695200-142696600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:142695200-142696800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:142695200-142696800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr6:142695200-142696800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr6:142695200-142696800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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