Variant report

Variant	rs10111180
Chromosome Location	chr8:59511756-59511757
allele	C/T
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	chr8:59511751-59512928	K562	blood:	n/a	n/a
2	POLR2A	chr8:59511711-59511887	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NSMAF	TF binding region

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10091952	0.92[EUR][1000 genomes]
rs10094910	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10099153	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10099912	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10104292	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs10107530	0.87[EUR][1000 genomes]
rs10111052	0.88[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10113323	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs10113667	0.86[EUR][1000 genomes]
rs10113830	0.90[EUR][1000 genomes]
rs10504256	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11774558	0.88[EUR][1000 genomes]
rs11775194	0.83[CEU][hapmap]
rs11782455	0.92[CEU][hapmap];0.89[EUR][1000 genomes]
rs11783174	0.81[AMR][1000 genomes]
rs11785141	0.88[EUR][1000 genomes]
rs12674724	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12676593	0.80[EUR][1000 genomes]
rs12677290	0.91[CEU][hapmap];0.83[EUR][1000 genomes]
rs12679938	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1352496	0.90[EUR][1000 genomes]
rs16923588	0.82[EUR][1000 genomes]
rs16923594	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206746	0.91[EUR][1000 genomes]
rs17272151	0.86[ASW][hapmap];1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1976162	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs2130072	0.94[EUR][1000 genomes]
rs2255834	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs2279460	0.91[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2279462	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2326129	0.93[ASN][1000 genomes]
rs2634488	0.89[ASN][1000 genomes]
rs2634530	0.87[CHB][hapmap];0.87[ASN][1000 genomes]
rs2634531	0.91[CHB][hapmap];0.89[ASN][1000 genomes]
rs2634534	0.84[ASN][1000 genomes]
rs2680897	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs2680899	0.87[CHB][hapmap];0.86[ASN][1000 genomes]
rs2680901	0.86[ASN][1000 genomes]
rs28711402	0.94[EUR][1000 genomes]
rs28809811	0.84[EUR][1000 genomes]
rs2946578	0.86[ASN][1000 genomes]
rs3816846	0.91[CEU][hapmap];0.88[EUR][1000 genomes]
rs4400366	0.82[EUR][1000 genomes]
rs4579515	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4598239	1.00[ASW][hapmap]
rs56249776	0.88[EUR][1000 genomes]
rs59979442	0.80[EUR][1000 genomes]
rs6991020	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995115	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs72647437	0.94[EUR][1000 genomes]
rs72647443	0.81[EUR][1000 genomes]
rs7826122	0.92[CEU][hapmap];0.83[EUR][1000 genomes]
rs7826603	0.82[EUR][1000 genomes]
rs7840932	0.82[EUR][1000 genomes]
rs7844231	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs901954	0.85[ASN][1000 genomes]
rs9297996	0.82[EUR][1000 genomes]
rs9297998	0.91[CEU][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:59483800-59528000	Strong transcription	Dnd41	blood
6	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
7	chr8:59498600-59511800	Weak transcription	Brain Germinal Matrix	brain
8	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
9	chr8:59500200-59524600	Weak transcription	HepG2	liver
10	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
11	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:59502000-59512800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
14	chr8:59505200-59513000	Strong transcription	Duodenum Mucosa	Duodenum
15	chr8:59505400-59513000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:59505600-59512800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr8:59506000-59513000	Strong transcription	Fetal Lung	lung
18	chr8:59506000-59516800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr8:59506200-59512000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr8:59506400-59513000	Strong transcription	Fetal Stomach	stomach
21	chr8:59506600-59512800	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:59507600-59521800	Weak transcription	Spleen	Spleen
24	chr8:59507600-59524800	Weak transcription	Fetal Kidney	kidney
25	chr8:59507600-59525200	Weak transcription	Ovary	ovary
26	chr8:59507600-59545400	Weak transcription	Gastric	stomach
27	chr8:59507800-59514000	Weak transcription	Colon Smooth Muscle	Colon
28	chr8:59508000-59515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:59508000-59521000	Weak transcription	Brain Hippocampus Middle	brain
30	chr8:59508000-59523400	Weak transcription	Pancreas	Pancrea
31	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:59508200-59514200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:59508200-59515800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
36	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
37	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
38	chr8:59508800-59521000	Weak transcription	Fetal Brain Male	brain
39	chr8:59509000-59512400	Weak transcription	Hela-S3	cervix
40	chr8:59509000-59514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:59509000-59514400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr8:59509000-59515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:59509000-59524000	Strong transcription	Fetal Thymus	thymus
44	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
47	chr8:59509200-59511800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:59509200-59512200	Weak transcription	NHEK	skin
49	chr8:59509200-59512200	Weak transcription	NHLF	lung
50	chr8:59509200-59512400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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