Variant report

Variant	rs6436908
Chromosome Location	chr2:230995447-230995448
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	chr2:230994161..230996459-chr2:230999501..231001005,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10176604	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10183352	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10183531	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10194896	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11895353	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11895360	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12611791	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12694830	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12694836	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12694837	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12694838	0.84[EUR][1000 genomes]
rs12694839	0.86[EUR][1000 genomes]
rs12694840	0.82[EUR][1000 genomes]
rs13007948	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13420805	0.84[EUR][1000 genomes]
rs2894693	0.82[EUR][1000 genomes]
rs4550657	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7589000	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7608556	0.84[EUR][1000 genomes]
rs9653375	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007920	chr2:230775427-231065592	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription 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	17 gene(s)	inside rSNPs	diseases
2	nsv1001562	chr2:230862717-231187043	Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv536156	chr2:230862717-231187043	Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv498047	chr2:230951712-231250489	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv875942	chr2:230959532-231008980	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv875943	chr2:230960946-231027162	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2830298	chr2:230988148-230995447	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6436908	SP100	cis	parietal	SCAN
rs6436908	SLC16A14	cis	Liver	GTEx
rs6436908	ALPI	cis	parietal	SCAN
rs6436908	SLC16A14	cis	multi-tissue	Pritchard

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:230991600-230995800	Weak transcription	Lung	lung
2	chr2:230992000-230995800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:230992800-230999200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:230993000-230995600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:230993800-230997000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:230994000-230998800	Weak transcription	HSMMtube	muscle
7	chr2:230994200-230995600	Weak transcription	Placenta	Placenta
8	chr2:230994200-230995600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:230994200-230996400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:230994200-230996800	Enhancers	NHLF	lung
11	chr2:230994200-230997400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:230994400-230995800	Weak transcription	Right Atrium	heart
13	chr2:230994400-230996000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:230994400-230996200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr2:230994400-230998400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:230994400-230998400	Weak transcription	Spleen	Spleen
17	chr2:230994400-231000200	Weak transcription	Brain Substantia Nigra	brain
18	chr2:230994600-230995600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:230994600-230996000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:230994600-230996400	Enhancers	NHDF-Ad	bronchial
21	chr2:230994600-231000200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:230995000-230996400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:230995400-230995600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:230995400-230995800	Enhancers	Fetal Lung	lung
25	chr2:230995400-230995800	Active TSS	Ovary	ovary
26	chr2:230995400-230995800	Flanking Active TSS	HUVEC	blood vessel
27	chr2:230995400-230996000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:230995400-230996000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:230995400-230996000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr2:230995400-230996000	Flanking Active TSS	HepG2	liver
31	chr2:230995400-230996200	Enhancers	HSMM	muscle
32	chr2:230995400-230996200	Enhancers	Osteobl	bone
33	chr2:230995400-230996800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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