Variant report

Variant	rs2235414
Chromosome Location	chr6:11738560-11738561
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:11738525-11738562	MCF-7	breast:	n/a	n/a
2	POLR2A	chr6:11738474-11738569	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11737947..11739936-chr6:11767756..11769331,2	MCF-7	breast:
2	chr15:52972928..52973805-chr6:11737938..11738770,2	MCF-7	breast:

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000111863	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2235418	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2294419	0.94[ASN][1000 genomes]
rs2294421	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2294425	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2294427	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs2294428	1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs4713834	1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs4713849	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs760789	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs932345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs9366877	0.96[ASN][1000 genomes]
rs9368855	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9394285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3396416	chr6:11734466-11738764	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2235414	C6orf105	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11723600-11744200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:11726400-11744600	Weak transcription	Right Atrium	heart
5	chr6:11732400-11744800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:11732600-11740000	Weak transcription	Psoas Muscle	Psoas
8	chr6:11732800-11738800	Weak transcription	Small Intestine	intestine
9	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr6:11733000-11741400	Weak transcription	HSMM	muscle
11	chr6:11734000-11738800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:11734600-11745000	Weak transcription	HSMMtube	muscle
13	chr6:11735200-11738800	Enhancers	Pancreas	Pancrea
14	chr6:11735200-11744600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:11735600-11738800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:11735600-11743200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:11735600-11754800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:11735800-11738600	Enhancers	Gastric	stomach
19	chr6:11736000-11741000	Weak transcription	GM12878-XiMat	blood
20	chr6:11736200-11744600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:11736200-11752400	Weak transcription	NHEK	skin
22	chr6:11736200-11754800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:11736600-11750600	Weak transcription	Stomach Mucosa	stomach
24	chr6:11736800-11738800	Enhancers	Fetal Brain Male	brain
25	chr6:11737000-11739200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr6:11737200-11738800	Enhancers	Fetal Brain Female	brain
27	chr6:11737200-11739800	Weak transcription	K562	blood
28	chr6:11737400-11739000	Enhancers	Placenta	Placenta
29	chr6:11737600-11738800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:11737600-11744800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:11737800-11739000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:11738000-11739400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:11738000-11743200	Weak transcription	Ovary	ovary
34	chr6:11738000-11743800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:11738200-11739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:11738400-11738800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr6:11738400-11738800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:11738400-11739000	Strong transcription	HMEC	breast
39	chr6:11738400-11739200	Enhancers	Adipose Nuclei	Adipose
40	chr6:11738400-11739600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:11738400-11739800	Enhancers	Primary monocytes fromperipheralblood	blood

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