Variant report

Variant	rs9645396
Chromosome Location	chr1:84348938-84348939
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	KAP1	chr1:84348456-84349196	HEK293	kidney:	n/a	n/a
2	POLR2A	chr1:84348579-84349052	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr1:84348522-84349252	H1-neurons	neurons:	n/a	n/a
4	ESR1	chr1:84348600-84348954	ECC-1	luminal epithelium:	n/a	n/a
5	SPI1	chr1:84348706-84348940	GM12878	blood:	n/a	chr1:84348880-84348889
6	SETDB1	chr1:84348595-84348992	U2OS	brain:	n/a	n/a
7	CTCF	chr1:84348503-84348963	MCF-7	breast:	n/a	n/a
8	SPI1	chr1:84348733-84348955	GM12891	blood:	n/a	chr1:84348880-84348889
9	REST	chr1:84348573-84349080	H1-neurons	neurons:	n/a	n/a
10	CTCF	chr1:84348840-84348990	RPTEC	kidney:	n/a	n/a
11	KAP1	chr1:84348461-84349135	U2OS	brain:	n/a	n/a
12	RAD21	chr1:84348544-84348969	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
TTLL7	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10489508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163864	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118371	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12119854	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123323	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126397	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126515	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128942	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12129276	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135679	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140562	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140964	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142873	0.85[EUR][1000 genomes]
rs12142944	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12143951	1.00[ASN][1000 genomes]
rs12144066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4437897	1.00[ASN][1000 genomes]
rs45515591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58842909	1.00[ASN][1000 genomes]
rs6690381	1.00[ASN][1000 genomes]
rs6700983	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519127	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947282	chr1:84338235-84350669	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84326800-84352600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:84327000-84352400	Weak transcription	Aorta	Aorta
3	chr1:84327000-84361800	Weak transcription	Fetal Brain Female	brain
4	chr1:84327000-84375400	Weak transcription	Brain Germinal Matrix	brain
5	chr1:84327200-84349600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84327200-84351400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:84328200-84354400	Weak transcription	Brain Substantia Nigra	brain
8	chr1:84329000-84352200	Weak transcription	Brain Angular Gyrus	brain
9	chr1:84329000-84373000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:84331000-84352400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:84333400-84382400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:84334600-84355400	Weak transcription	HSMMtube	muscle
13	chr1:84335800-84352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:84336400-84349600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:84338800-84367600	Weak transcription	Pancreas	Pancrea
16	chr1:84341000-84359400	Weak transcription	Psoas Muscle	Psoas
17	chr1:84341200-84380400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:84343600-84361800	Weak transcription	Fetal Brain Male	brain
19	chr1:84345600-84384400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:84345800-84353800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:84346800-84382400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:84348200-84349800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:84348200-84349800	Strong transcription	Brain Anterior Caudate	brain
24	chr1:84348400-84349000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:84348400-84349200	Enhancers	Osteobl	bone
26	chr1:84348400-84349800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:84348400-84349800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:84348400-84350000	Enhancers	NHDF-Ad	bronchial
29	chr1:84348400-84350200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr1:84348400-84350200	Enhancers	NHEK	skin
31	chr1:84348600-84349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:84348600-84349200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:84348600-84349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:84348600-84349800	Strong transcription	Stomach Smooth Muscle	stomach
35	chr1:84348600-84352000	Weak transcription	HSMM	muscle

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