Variant report

Variant	rs6991967
Chromosome Location	chr8:102601928-102601929
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102503587..102506004-chr8:102600065..102605597,5	MCF-7	breast:
2	chr8:102593460..102597757-chr8:102598202..102602881,7	MCF-7	breast:
3	chr8:102503060..102507030-chr8:102601716..102605768,5	MCF-7	breast:
4	chr8:102599624..102601949-chr8:102615535..102617652,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254024	Chromatin interaction
ENSG00000083307	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs28579707	0.82[AMR][1000 genomes]
rs9297306	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][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	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv396957	chr8:102598319-102604328	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6991967	PABPC1	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102590400-102603400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:102592000-102611000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:102594000-102603000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:102594000-102611600	Weak transcription	Fetal Intestine Large	intestine
8	chr8:102594200-102603800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:102594200-102612000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:102594600-102603600	Weak transcription	Placenta	Placenta
11	chr8:102595800-102605400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:102596000-102615000	Weak transcription	Stomach Mucosa	stomach
13	chr8:102597400-102602200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:102597400-102603400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:102597400-102603600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:102597400-102604200	Weak transcription	Esophagus	oesophagus
17	chr8:102597400-102606600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr8:102597400-102616000	Weak transcription	Gastric	stomach
19	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
20	chr8:102599000-102603800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:102599000-102611600	Weak transcription	Pancreas	Pancrea
22	chr8:102599200-102602000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:102600000-102603000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:102600200-102602000	Enhancers	Fetal Brain Male	brain
25	chr8:102600400-102602800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:102600600-102602000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:102601000-102602400	Enhancers	HMEC	breast
29	chr8:102601200-102602200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:102601400-102602800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:102601400-102612200	Weak transcription	Fetal Stomach	stomach
32	chr8:102601600-102603000	Enhancers	NHEK	skin
33	chr8:102601600-102603400	Weak transcription	Fetal Brain Female	brain
34	chr8:102601600-102611600	Weak transcription	Fetal Intestine Small	intestine
35	chr8:102601600-102616200	Weak transcription	Fetal Kidney	kidney
36	chr8:102601800-102603400	Weak transcription	Fetal Lung	lung

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