Variant report

Variant	rs10106205
Chromosome Location	chr8:131080411-131080412
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	NFIC	chr8:131079925-131080578	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr8:131079988-131081064	SK-N-SH	brain:	n/a	n/a
3	USF1	chr8:131080063-131080435	SK-N-SH	brain:	n/a	n/a
4	BCLAF1	chr8:131080398-131080806	GM12878	blood:	n/a	n/a
5	TCF12	chr8:131079826-131080702	SK-N-SH	brain:	n/a	n/a
6	JUND	chr8:131079907-131080544	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr8:131079911-131080696	SK-N-SH	brain:	n/a	n/a
8	JUND	chr8:131079881-131080862	SK-N-SH	brain:	n/a	n/a
9	MAX	chr8:131080039-131080486	SK-N-SH	brain:	n/a	n/a
10	EP300	chr8:131079927-131080592	SK-N-SH	brain:	n/a	n/a
11	RUNX3	chr8:131080381-131080840	GM12878	blood:	n/a	n/a
12	SIN3AK20	chr8:131080117-131080411	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr8:131079929-131081092	SK-N-SH	brain:	n/a	n/a
14	MAX	chr8:131079981-131080512	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr8:131079952-131080868	SK-N-SH	brain:	n/a	n/a
16	RUNX3	chr8:131080328-131080909	GM12878	blood:	n/a	n/a
17	MXI1	chr8:131079863-131080906	IMR90	lung:	n/a	n/a
18	PBX3	chr8:131079928-131080558	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr8:131079853-131081212	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000203377	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10088575	0.86[AFR][1000 genomes]
rs10101611	0.92[AFR][1000 genomes]
rs11774067	1.00[CEU][hapmap]
rs11774131	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11774834	0.85[CEU][hapmap]
rs11774917	0.85[CEU][hapmap]
rs11776863	0.82[EUR][1000 genomes]
rs11778454	0.89[EUR][1000 genomes]
rs11779191	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11781272	1.00[EUR][1000 genomes]
rs11781294	1.00[EUR][1000 genomes]
rs11781851	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs11782152	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11782883	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11783860	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11783940	0.90[EUR][1000 genomes]
rs11986237	0.86[AFR][1000 genomes]
rs11988989	0.83[AFR][1000 genomes]
rs28380096	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28759724	1.00[EUR][1000 genomes]
rs4319146	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4639572	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs55756220	0.86[AFR][1000 genomes]
rs6989965	0.87[EUR][1000 genomes]
rs7003568	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7008180	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72722303	1.00[EUR][1000 genomes]
rs72722310	0.90[EUR][1000 genomes]
rs72722316	0.89[EUR][1000 genomes]
rs72722318	0.87[EUR][1000 genomes]
rs72722323	0.87[EUR][1000 genomes]
rs72722325	0.89[EUR][1000 genomes]
rs72722339	0.84[EUR][1000 genomes]
rs72722344	0.84[EUR][1000 genomes]
rs72722347	0.84[EUR][1000 genomes]
rs72722349	0.84[EUR][1000 genomes]
rs72722355	0.81[EUR][1000 genomes]
rs752716	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131063600-131082800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:131066400-131098000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:131066800-131082800	Strong transcription	Fetal Stomach	stomach
7	chr8:131068800-131095400	Weak transcription	Fetal Kidney	kidney
8	chr8:131070200-131086800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:131070400-131089600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:131070400-131090800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:131070600-131095800	Weak transcription	Colonic Mucosa	Colon
13	chr8:131073000-131087000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:131073200-131085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:131073200-131086000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr8:131073200-131087200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:131073200-131087200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr8:131073400-131082800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:131073400-131086800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:131073400-131087000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:131073600-131084800	Weak transcription	Ovary	ovary
22	chr8:131073600-131086600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:131074200-131082800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr8:131074200-131082800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr8:131074400-131080800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:131074800-131085800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:131075000-131081000	Strong transcription	Fetal Intestine Large	intestine
28	chr8:131075000-131087400	Weak transcription	Brain Angular Gyrus	brain
29	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:131075200-131081600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:131075200-131081800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:131075200-131085200	Weak transcription	Aorta	Aorta
33	chr8:131075200-131085600	Weak transcription	Brain Anterior Caudate	brain
34	chr8:131075200-131085600	Weak transcription	Pancreas	Pancrea
35	chr8:131075200-131085600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr8:131075200-131086800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:131075400-131081000	Genic enhancers	NHEK	skin
38	chr8:131075600-131094400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr8:131075600-131105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:131075800-131082400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:131075800-131082800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:131075800-131085800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:131075800-131087000	Strong transcription	Adipose Nuclei	Adipose
44	chr8:131075800-131087600	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:131076200-131087000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
47	chr8:131076400-131086800	Weak transcription	Esophagus	oesophagus
48	chr8:131076600-131080800	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr8:131076600-131081200	Strong transcription	HUVEC	blood vessel
50	chr8:131076600-131082000	Enhancers	Placenta Amnion	Placenta Amnion

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