Variant report

Variant	rs499782
Chromosome Location	chr1:225768228-225768229
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	ZNF263	chr1:225767935-225768401	HEK293-T-REx	kidney:	n/a	n/a

Variant related genes	Relation type
ENAH	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10799312	1.00[CHB][hapmap];0.82[CHD][hapmap]
rs10799320	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10915836	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588279	0.91[CHB][hapmap]
rs12032961	1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12034829	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.87[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1340865	1.00[CHB][hapmap];0.89[CHD][hapmap];0.88[JPT][hapmap]
rs1340867	0.81[CHB][hapmap]
rs1771316	0.85[YRI][hapmap]
rs1891000	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2039620	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2066233	0.91[CHB][hapmap]
rs3766930	1.00[CHB][hapmap]
rs3893032	1.00[CHB][hapmap];0.89[CHD][hapmap]
rs4554690	0.82[ASN][1000 genomes]
rs4653638	0.82[JPT][hapmap]
rs481746	0.80[AMR][1000 genomes]
rs6426075	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[JPT][hapmap]
rs6696038	0.91[CHB][hapmap]
rs6702641	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7522622	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7527014	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7527184	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7529690	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9426126	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9725758	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225730600-225776200	Weak transcription	Pancreas	Pancrea
2	chr1:225744800-225768600	Weak transcription	Fetal Brain Male	brain
3	chr1:225745000-225770000	Weak transcription	HUVEC	blood vessel
4	chr1:225745000-225772800	Weak transcription	Fetal Brain Female	brain
5	chr1:225748800-225799400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:225749200-225783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:225754400-225769400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:225755200-225772200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:225759400-225769600	Weak transcription	Lung	lung
10	chr1:225759600-225787600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:225760000-225769800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:225762000-225768600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:225764200-225768600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:225764400-225768600	Enhancers	Fetal Heart	heart
16	chr1:225766200-225768600	Weak transcription	NHLF	lung
17	chr1:225766400-225769800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:225766400-225780000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:225766400-225783600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:225766600-225768600	Weak transcription	A549	lung
21	chr1:225766600-225779600	Weak transcription	NH-A	brain
22	chr1:225766800-225769800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:225767000-225768400	Weak transcription	Osteobl	bone
24	chr1:225767000-225773600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:225767200-225769400	Enhancers	Fetal Lung	lung
26	chr1:225767600-225768400	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:225767600-225769200	Enhancers	Brain Hippocampus Middle	brain
28	chr1:225767600-225769200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:225767600-225770800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr1:225767800-225768600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:225767800-225768600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:225767800-225768800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:225767800-225768800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:225767800-225769000	Enhancers	HSMMtube	muscle
35	chr1:225767800-225769200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:225767800-225770400	Enhancers	Colon Smooth Muscle	Colon
37	chr1:225768000-225768400	Enhancers	Aorta	Aorta
38	chr1:225768000-225768400	Enhancers	Right Ventricle	heart
39	chr1:225768000-225768400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:225768000-225768400	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr1:225768000-225768600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:225768000-225768600	Enhancers	Ovary	ovary
43	chr1:225768000-225768600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr1:225768000-225768800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:225768000-225768800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:225768000-225768800	Enhancers	Brain Anterior Caudate	brain
47	chr1:225768000-225768800	Enhancers	Psoas Muscle	Psoas
48	chr1:225768000-225768800	Enhancers	Right Atrium	heart
49	chr1:225768000-225768800	Enhancers	HSMM	muscle
50	chr1:225768000-225769000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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