Variant report

Variant	rs768485
Chromosome Location	chr9:3367244-3367245
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	USF1	chr9:3367215-3367529	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF3	chr9:3367226-3367362	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000215297	TF binding region

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

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10117357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10117431	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10124292	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10124295	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10511447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10814019	0.82[ASN][1000 genomes]
rs10814097	0.86[JPT][hapmap]
rs10971534	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10971535	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10971599	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10971667	0.89[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.83[ASN][1000 genomes]
rs10971685	0.89[YRI][hapmap]
rs12002215	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12115798	0.88[JPT][hapmap]
rs12338746	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12340535	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12341652	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12341737	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12346432	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs12347068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12554323	0.88[JPT][hapmap]
rs13286511	0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13290412	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs13298219	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs13300358	0.88[JPT][hapmap]
rs13302664	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs13302841	0.86[JPT][hapmap]
rs16917371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16924266	0.88[JPT][hapmap]
rs1998976	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs2986682	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35945655	0.84[ASN][1000 genomes]
rs3758196	0.89[CHB][hapmap];0.88[JPT][hapmap]
rs56829164	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66463406	0.87[ASN][1000 genomes]
rs7021584	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7022682	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7022711	0.85[YRI][hapmap]
rs7024933	0.85[YRI][hapmap]
rs7026530	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7028812	0.88[JPT][hapmap]
rs7029544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7041836	0.88[CHB][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs7043493	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7045360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7858850	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7860163	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7864459	0.88[JPT][hapmap]
rs7869854	1.00[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7870914	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9298952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv892086	chr9:3012276-3410838	Bivalent Enhancer ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1032921	chr9:3139007-3502815	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539940	chr9:3139007-3502815	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv531566	chr9:3288211-3545454	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv892089	chr9:3290569-3578094	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv916259	chr9:3308176-4296711	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1034280	chr9:3319718-3491987	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv539942	chr9:3319718-3491987	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1028815	chr9:3319718-3584455	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv466091	chr9:3349487-3389660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv613146	chr9:3349487-3389660	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:3288200-3378400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr9:3337800-3388800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr9:3341200-3397600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:3351000-3408200	Weak transcription	Fetal Intestine Small	intestine
5	chr9:3355000-3383800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:3359400-3383200	Weak transcription	Primary T cells from cord blood	blood
7	chr9:3359400-3387600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:3359600-3369600	Weak transcription	Pancreas	Pancrea
9	chr9:3359600-3383800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:3359800-3384000	Weak transcription	Primary B cells from cord blood	blood
11	chr9:3361200-3370600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr9:3363200-3369000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:3364200-3397200	Weak transcription	Left Ventricle	heart
14	chr9:3364400-3369200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr9:3364800-3393800	Weak transcription	Adipose Nuclei	Adipose
16	chr9:3366400-3368600	Weak transcription	Right Atrium	heart
17	chr9:3366400-3369000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:3366600-3368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr9:3366800-3367600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:3366800-3367600	Enhancers	Brain Anterior Caudate	brain
21	chr9:3366800-3368000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:3366800-3368600	Weak transcription	Stomach Mucosa	stomach
23	chr9:3367000-3367400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:3367000-3367400	Enhancers	Brain Substantia Nigra	brain
25	chr9:3367000-3367600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:3367000-3367600	Enhancers	Brain Hippocampus Middle	brain
27	chr9:3367000-3367600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:3367000-3367600	Enhancers	Colon Smooth Muscle	Colon
29	chr9:3367000-3369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:3367200-3367400	Enhancers	H1 Cell Line	embryonic stem cell
31	chr9:3367200-3367400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:3367200-3367600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr9:3367200-3367600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr9:3367200-3367600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr9:3367200-3367600	ZNF genes & repeats	GM12878-XiMat	blood
36	chr9:3367200-3367800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:3367200-3367800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr9:3367200-3367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:3367200-3367800	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr9:3367200-3367800	Enhancers	Brain Angular Gyrus	brain
41	chr9:3367200-3368000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr9:3367200-3369000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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