Variant report

Variant	rs6914064
Chromosome Location	chr6:128782919-128782920
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	chr6:128778610..128780659-chr6:128782620..128784185,2	MCF-7	breast:
2	chr6:128776525..128778168-chr6:128782258..128784751,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9372892	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv886649	chr6:128399657-128808054	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv830800	chr6:128710631-128878435	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6914064	HEY2	cis	cerebellum	SCAN
rs6914064	TMPRSS3	trans	lymphoblastoid	seeQTL
rs6914064	MED23	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128759800-128786800	Weak transcription	Left Ventricle	heart
2	chr6:128767800-128785200	Weak transcription	NHEK	skin
3	chr6:128768200-128785000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:128773400-128795200	Weak transcription	HSMMtube	muscle
5	chr6:128774600-128786800	Weak transcription	Right Ventricle	heart
6	chr6:128775200-128785800	Weak transcription	Ovary	ovary
7	chr6:128775400-128785000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:128777200-128785000	Weak transcription	Osteobl	bone
9	chr6:128777800-128786800	Weak transcription	Stomach Mucosa	stomach
10	chr6:128778000-128786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:128778200-128786200	Weak transcription	Fetal Intestine Large	intestine
12	chr6:128778800-128790600	Weak transcription	Fetal Heart	heart
13	chr6:128779400-128785400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr6:128779400-128785400	Weak transcription	HepG2	liver
15	chr6:128779800-128784200	Weak transcription	NHLF	lung
16	chr6:128780200-128786000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:128780400-128795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr6:128780800-128784400	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:128780800-128785200	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:128781000-128783200	Enhancers	Brain Substantia Nigra	brain
21	chr6:128781200-128785400	Weak transcription	HUVEC	blood vessel
22	chr6:128781600-128786800	Weak transcription	Pancreas	Pancrea
23	chr6:128781800-128786000	Weak transcription	Fetal Intestine Small	intestine
24	chr6:128782400-128783200	Enhancers	Liver	Liver
25	chr6:128782600-128783000	Enhancers	Brain Anterior Caudate	brain
26	chr6:128782800-128783000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:128782800-128783000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:128782800-128783200	Enhancers	Fetal Lung	lung

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