Variant report

Variant	rs12511735
Chromosome Location	chr4:8105010-8105011
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8101919..8103661-chr4:8104511..8106585,2	K562	blood:
2	chr4:8104135..8106823-chr4:8110568..8113011,2	MCF-7	breast:
3	chr4:8102999..8104721-chr4:8104874..8107526,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs17795569	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv469779	chr4:7965253-8177646	Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv482448	chr4:7965253-8177646	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
5	nsv829852	chr4:7991906-8151267	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv878585	chr4:8023484-8116202	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv878586	chr4:8023484-8148159	Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv461214	chr4:8085174-8119937	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv593625	chr4:8085174-8119937	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv461215	chr4:8089598-8118561	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12511735	GRPEL1	cis	parietal	SCAN
rs12511735	SH3TC1	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8081600-8114400	Weak transcription	Gastric	stomach
2	chr4:8085800-8112000	Weak transcription	Brain Angular Gyrus	brain
3	chr4:8096800-8111600	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:8097800-8105200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:8098400-8109600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:8098400-8110200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:8099400-8105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:8101800-8105200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:8102800-8105400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr4:8103400-8105400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:8103400-8105800	Weak transcription	Lung	lung
12	chr4:8103800-8105400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
13	chr4:8104000-8106800	Weak transcription	Esophagus	oesophagus
14	chr4:8104000-8109000	Weak transcription	HMEC	breast
15	chr4:8104000-8110800	Weak transcription	Psoas Muscle	Psoas
16	chr4:8104200-8106600	Weak transcription	Fetal Brain Female	brain
17	chr4:8104400-8114400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr4:8104600-8106400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8104600-8108800	Strong transcription	Aorta	Aorta
20	chr4:8104600-8109400	Strong transcription	Spleen	Spleen
21	chr4:8104600-8119400	Weak transcription	Hela-S3	cervix
22	chr4:8104800-8109600	Weak transcription	Pancreas	Pancrea
23	chr4:8104800-8114600	Weak transcription	Right Ventricle	heart
24	chr4:8105000-8107200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:8105000-8107400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
26	chr4:8105000-8107400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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