Variant report

Variant	rs12706628
Chromosome Location	chr7:124568710-124568711
allele	A/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	POLR2A	chr7:124566718-124570402	K562	blood:	n/a	n/a
2	IRF1	chr7:124568492-124568719	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:124568199..124570049-chr7:127030538..127032262,2	K562	blood:
2	chr7:124521370..124523136-chr7:124567552..124569550,2	K562	blood:
3	chr7:124534351..124537236-chr7:124567413..124569702,2	K562	blood:

Variant related genes	Relation type
POT1-AS1	TF binding region
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11972248	0.95[CEU][hapmap]
rs13226395	1.00[CHD][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv464707	chr7:124486980-124572288	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv608341	chr7:124486980-124572288	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv608342	chr7:124549573-124600505	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12706628	RNF148	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124498200-124568800	Weak transcription	Brain Anterior Caudate	brain
2	chr7:124527600-124569000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:124527600-124569000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr7:124530000-124569000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:124532000-124569000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:124532600-124568800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr7:124532600-124569000	Weak transcription	HSMM	muscle
8	chr7:124532800-124569000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr7:124538000-124569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:124541000-124569000	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:124541400-124568800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:124541400-124568800	Weak transcription	Fetal Intestine Small	intestine
13	chr7:124541400-124569000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:124541400-124569000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:124541400-124569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:124541400-124569400	Weak transcription	Lung	lung
17	chr7:124541600-124569200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:124548400-124569000	Weak transcription	NH-A	brain
19	chr7:124550200-124569200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:124550600-124568800	Weak transcription	Fetal Intestine Large	intestine
21	chr7:124550800-124569000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr7:124551000-124569000	Weak transcription	HSMMtube	muscle
23	chr7:124551400-124568800	Weak transcription	Fetal Kidney	kidney
24	chr7:124551800-124568800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:124552400-124569000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:124553200-124568800	Weak transcription	Fetal Thymus	thymus
27	chr7:124553400-124568800	Weak transcription	HMEC	breast
28	chr7:124555400-124569000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:124555600-124568800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:124555600-124569000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:124555800-124568800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr7:124557200-124568800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr7:124557400-124569000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:124558200-124568800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:124558200-124568800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:124558200-124569200	Weak transcription	Left Ventricle	heart
37	chr7:124560000-124569400	Weak transcription	Small Intestine	intestine
38	chr7:124560600-124569000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:124562800-124568800	Weak transcription	A549	lung
40	chr7:124563400-124570200	Active TSS	GM12878-XiMat	blood
41	chr7:124563800-124568800	Weak transcription	Osteobl	bone
42	chr7:124565000-124568800	Weak transcription	Hela-S3	cervix
43	chr7:124565200-124568800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:124565600-124568800	Weak transcription	NHEK	skin
45	chr7:124566200-124568800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:124566200-124568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:124566400-124569000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:124567000-124568800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr7:124567000-124569000	Weak transcription	Psoas Muscle	Psoas
50	chr7:124567200-124569000	Weak transcription	Aorta	Aorta

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