Variant report

Variant	rs9484631
Chromosome Location	chr6:142694410-142694411
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142692998..142695094-chr6:142697780..142699490,2	MCF-7	breast:
2	chr6:142681414..142683380-chr6:142691600..142694541,2	MCF-7	breast:
3	chr6:142686552..142689660-chr6:142691331..142695100,3	MCF-7	breast:
4	chr6:142621406..142625298-chr6:142688620..142694485,6	MCF-7	breast:
5	chr6:142693095..142695655-chr6:142695797..142698299,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10080722	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10080956	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9321867	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484632	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484633	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496356	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496357	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496358	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496360	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496361	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496365	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496367	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496368	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496371	1.00[AMR][1000 genomes]
rs9496372	1.00[YRI][hapmap];1.00[AMR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142681000-142695200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:142682600-142694600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:142682800-142694600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:142689400-142696000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:142691600-142695200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:142692000-142695600	Weak transcription	Fetal Lung	lung
7	chr6:142692800-142696200	Enhancers	HUVEC	blood vessel
8	chr6:142693000-142696200	Enhancers	NHEK	skin
9	chr6:142693200-142694800	Genic enhancers	HepG2	liver
10	chr6:142693200-142696800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:142693200-142700000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:142693200-142700200	Enhancers	HMEC	breast
13	chr6:142693200-142700600	Enhancers	Hela-S3	cervix
14	chr6:142693400-142694800	Enhancers	Stomach Mucosa	stomach
15	chr6:142693400-142696200	Enhancers	Fetal Intestine Large	intestine
16	chr6:142693400-142696600	Enhancers	Fetal Intestine Small	intestine
17	chr6:142693600-142694600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr6:142693600-142694800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:142693600-142694800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:142693600-142695400	Enhancers	Small Intestine	intestine
21	chr6:142693600-142696200	Enhancers	Liver	Liver
22	chr6:142693800-142695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:142693800-142696400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:142694000-142695000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:142694000-142695200	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:142694000-142695200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr6:142694000-142695400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr6:142694000-142695400	Weak transcription	NH-A	brain
29	chr6:142694000-142695600	Weak transcription	Placenta	Placenta
30	chr6:142694000-142695600	Weak transcription	HSMMtube	muscle
31	chr6:142694000-142696000	Weak transcription	NHDF-Ad	bronchial
32	chr6:142694000-142696000	Weak transcription	Osteobl	bone
33	chr6:142694000-142698000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:142694000-142699600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr6:142694200-142695200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:142694200-142695600	Weak transcription	Fetal Kidney	kidney
37	chr6:142694200-142695800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr6:142694400-142694800	Flanking Active TSS	A549	lung
39	chr6:142694400-142695200	Weak transcription	Duodenum Mucosa	Duodenum
40	chr6:142694400-142695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:142694400-142695400	Weak transcription	HSMM	muscle
42	chr6:142694400-142696200	Weak transcription	NHLF	lung
43	chr6:142694400-142696800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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