Variant report

Variant	rs7801117
Chromosome Location	chr7:69287445-69287446
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	BATF	chr7:69287199-69287448	GM12878	blood:	n/a	chr7:69287310-69287321
2	EP300	chr7:69286758-69291642	SK-N-SH	brain:	n/a	chr7:69291036-69291050 chr7:69290891-69290900 chr7:69287730-69287740 chr7:69288757-69288771 chr7:69290887-69290901
3	ZNF263	chr7:69287194-69288583	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
AUTS2	TF binding region

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs1014417	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10245786	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10257549	0.86[ASN][1000 genomes]
rs10259748	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10452738	0.86[ASN][1000 genomes]
rs11508453	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11761141	0.81[AMR][1000 genomes]
rs11763186	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767997	0.81[ASN][1000 genomes]
rs11974201	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11978431	0.86[ASN][1000 genomes]
rs12333974	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698813	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12698816	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12698822	0.81[AMR][1000 genomes]
rs12698825	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12698830	0.86[ASN][1000 genomes]
rs13226538	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13237811	0.83[ASN][1000 genomes]
rs17140933	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17140980	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17140982	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1860488	0.91[ASN][1000 genomes]
rs1985165	0.84[ASN][1000 genomes]
rs210591	0.92[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs210593	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs210594	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs210596	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs210599	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs210601	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs210604	0.84[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs210606	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2533427	0.89[ASN][1000 genomes]
rs2533428	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2533429	0.89[ASN][1000 genomes]
rs2533430	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2533431	0.91[ASN][1000 genomes]
rs2533433	0.91[ASN][1000 genomes]
rs2533435	0.86[ASN][1000 genomes]
rs2533449	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2533458	0.91[ASN][1000 genomes]
rs2851483	0.89[ASN][1000 genomes]
rs2851484	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2851487	0.91[ASN][1000 genomes]
rs2851503	0.80[ASN][1000 genomes]
rs2851506	0.81[ASN][1000 genomes]
rs2851507	0.81[ASN][1000 genomes]
rs2851514	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2851515	0.89[ASN][1000 genomes]
rs2851516	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2865805	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28770244	0.86[ASN][1000 genomes]
rs34221396	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34617709	0.81[AFR][1000 genomes]
rs35696945	0.86[ASN][1000 genomes]
rs4717520	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4718906	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs505949	0.91[ASN][1000 genomes]
rs513150	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs532820	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs547630	0.91[ASN][1000 genomes]
rs55990156	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs565505	0.91[ASN][1000 genomes]
rs576193	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs576293	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs585282	0.84[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[ASN][1000 genomes]
rs589983	0.92[ASN][1000 genomes]
rs590609	0.94[ASN][1000 genomes]
rs593063	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs595681	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs60359704	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs610930	0.87[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs626767	0.91[ASN][1000 genomes]
rs627981	0.91[ASN][1000 genomes]
rs645245	0.91[ASN][1000 genomes]
rs6460532	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs646233	0.90[ASN][1000 genomes]
rs649200	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6943309	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6949651	0.81[ASN][1000 genomes]
rs6950485	0.81[ASN][1000 genomes]
rs6951921	0.86[ASN][1000 genomes]
rs6955261	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6958981	0.82[AMR][1000 genomes]
rs6961164	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6963882	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6966036	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978134	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6979355	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6980307	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs726372	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7779010	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7786073	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7791101	0.81[ASN][1000 genomes]
rs7795152	0.84[ASN][1000 genomes]
rs7796973	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7797340	0.86[ASN][1000 genomes]
rs7809145	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7809934	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs877687	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9332399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69279800-69289000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr7:69279800-69289600	Weak transcription	Psoas Muscle	Psoas
3	chr7:69282800-69288000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:69282800-69288200	Weak transcription	Thymus	Thymus
5	chr7:69282800-69289400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:69282800-69289600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:69283200-69288200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:69283200-69289000	Weak transcription	Fetal Thymus	thymus
9	chr7:69283200-69289600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:69283200-69289600	Weak transcription	HSMM	muscle
11	chr7:69283400-69289400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:69283400-69291800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:69283400-69292600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:69284200-69288000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:69284400-69289600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:69284400-69289600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:69284400-69290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:69284600-69288000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:69284600-69288000	Weak transcription	Brain Angular Gyrus	brain
20	chr7:69284600-69289600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:69284600-69289600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:69284600-69289800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:69284600-69289800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:69284600-69290400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:69284600-69297400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:69284800-69288200	Weak transcription	Lung	lung
27	chr7:69284800-69289400	Weak transcription	HSMMtube	muscle
28	chr7:69284800-69289600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:69284800-69289600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:69284800-69291400	Weak transcription	Left Ventricle	heart
31	chr7:69285000-69295800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:69285800-69287600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:69285800-69288000	Weak transcription	Brain Germinal Matrix	brain
34	chr7:69285800-69289200	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:69286000-69290400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:69286200-69288200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:69286400-69288600	Enhancers	Ovary	ovary
38	chr7:69286400-69288600	Weak transcription	Dnd41	blood
39	chr7:69286800-69288800	Enhancers	Fetal Lung	lung
40	chr7:69287000-69287600	Enhancers	GM12878-XiMat	blood
41	chr7:69287000-69287800	Enhancers	Fetal Brain Male	brain
42	chr7:69287000-69288400	Enhancers	Brain Hippocampus Middle	brain
43	chr7:69287200-69287800	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:69287200-69287800	Enhancers	Stomach Smooth Muscle	stomach
45	chr7:69287200-69288200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:69287200-69288400	Enhancers	Fetal Stomach	stomach
47	chr7:69287200-69288600	Enhancers	Brain Anterior Caudate	brain
48	chr7:69287200-69288600	Enhancers	Colon Smooth Muscle	Colon
49	chr7:69287200-69288600	Enhancers	Right Atrium	heart
50	chr7:69287200-69288800	Enhancers	Cortex derived primary cultured neurospheres	brain

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