Variant report

Variant	rs2363463
Chromosome Location	chr2:209131368-209131369
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MBD4	chr2:209129927-209131651	HepG2	liver:	n/a	n/a
2	TAF1	chr2:209130526-209131370	HepG2	liver:	n/a	n/a
3	TBL1XR1	chr2:209129765-209131669	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:209130611-209131413	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:209130039-209131427	K562	blood:	n/a	n/a
6	MAX	chr2:209130016-209131566	ECC-1	luminal epithelium:	n/a	chr2:209130353-209130362
7	POLR2A	chr2:209129927-209131567	GM12892	blood:	n/a	n/a
8	RAD21	chr2:209131094-209131473	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr2:209129919-209131492	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:209130547-209131416	MCF-7	breast:	n/a	n/a
11	POLR2A	chr2:209130466-209131378	GM12878	blood:	n/a	n/a
12	CTCF	chr2:209131233-209131492	K562	blood:	n/a	n/a
13	POLR2A	chr2:209129665-209132065	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:209130046-209131501	GM15510	blood:	n/a	n/a
15	ZNF143	chr2:209130297-209131557	GM12878	blood:	n/a	n/a
16	NFYB	chr2:209130715-209131483	K562	blood:	n/a	n/a
17	POLR2A	chr2:209130054-209131410	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:209130035-209131391	GM12891	blood:	n/a	n/a
19	REST	chr2:209130121-209131403	A549	lung:	n/a	chr2:209131202-209131220
20	FOXM1	chr2:209130035-209131509	GM12878	blood:	n/a	n/a
21	ZC3H11A	chr2:209131264-209131682	K562	blood:	n/a	n/a
22	CTCF	chr2:209131300-209131450	RPTEC	kidney:	n/a	n/a
23	MAZ	chr2:209130274-209131469	K562	blood:	n/a	chr2:209130353-209130362
24	POLR2A	chr2:209129750-209131632	GM12892	blood:	n/a	n/a
25	MAX	chr2:209129806-209131369	A549	lung:	n/a	chr2:209130353-209130362
26	SIN3A	chr2:209130565-209131522	GM12878	blood:	n/a	chr2:209131049-209131062
27	POLR2A	chr2:209129719-209131530	GM19099	blood:	n/a	n/a
28	CTCF	chr2:209131320-209131470	BJ	skin:	n/a	n/a
29	TBP	chr2:209130335-209131522	HepG2	liver:	n/a	n/a
30	RCOR1	chr2:209130143-209131448	K562	blood:	n/a	n/a
31	POLR2A	chr2:209129898-209131869	GM12878	blood:	n/a	n/a
32	ARID3A	chr2:209131347-209131467	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:209130156-209131472	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr2:209129957-209131634	GM12878	blood:	n/a	n/a
35	CTCF	chr2:209131300-209131450	HPAF	blood vessel:	n/a	n/a
36	SIN3A	chr2:209130131-209131898	H1-hESC	embryonic stem cell:	n/a	chr2:209131049-209131062
37	MXI1	chr2:209130119-209131935	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:209129772-209131636	NB4	blood:	n/a	n/a
39	POLR2A	chr2:209130069-209131496	GM10847	blood:	n/a	n/a
40	MAZ	chr2:209130094-209131810	GM12878	blood:	n/a	chr2:209130353-209130362
41	TBP	chr2:209130057-209131721	GM12878	blood:	n/a	n/a
42	CTCF	chr2:209131300-209131450	A549	lung:	n/a	n/a
43	WRNIP1	chr2:209129994-209131685	GM12878	blood:	n/a	n/a
44	HEY1	chr2:209130403-209131392	K562	blood:	n/a	chr2:209130885-209130900 chr2:209131243-209131258
45	NRF1	chr2:209130480-209131595	SK-N-SH	brain:	n/a	n/a
46	STAT5A	chr2:209130066-209131368	GM12878	blood:	n/a	chr2:209130796-209130805 chr2:209130797-209130806 chr2:209130967-209130979
47	POLR2A	chr2:209130467-209131381	HL-60	blood:	n/a	n/a
48	MAX	chr2:209130438-209131807	Hela-S3	cervix:	n/a	n/a
49	RUNX3	chr2:209129717-209131547	GM12878	blood:	n/a	n/a
50	RELA	chr2:209130027-209131595	GM19193	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:209104332..209106656-chr2:209130862..209133286,2	MCF-7	breast:
2	chr1:28832504..28833487-chr2:209130651..209131371,2	Hela-S3	cervix:
3	chr2:209129671..209132812-chr2:209132994..209136144,5	MCF-7	breast:
4	chr2:209116323..209122695-chr2:209127326..209132568,14	K562	blood:
5	chr2:209116323..209123332-chr2:209127326..209134005,17	K562	blood:
6	chr2:209129669..209131681-chr2:209132251..209135245,2	K562	blood:
7	chr2:209119136..209119874-chr2:209130641..209131606,2	MCF-7	breast:
8	chr2:209117138..209121626-chr2:209129108..209132782,7	MCF-7	breast:
9	chr2:209118313..209121811-chr2:209130870..209135068,6	MCF-7	breast:

No data

Variant related genes	Relation type
IDH1	TF binding region
ENSG00000242125	Chromatin interaction
ENSG00000231908	Chromatin interaction
ENSG00000228380	Chromatin interaction
ENSG00000138413	Chromatin interaction
ENSG00000180198	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10171006	1.00[EUR][1000 genomes]
rs10175739	1.00[EUR][1000 genomes]
rs10186531	1.00[EUR][1000 genomes]
rs10197958	1.00[EUR][1000 genomes]
rs10201702	1.00[EUR][1000 genomes]
rs10208004	1.00[EUR][1000 genomes]
rs10210393	1.00[EUR][1000 genomes]
rs10804168	1.00[EUR][1000 genomes]
rs10932256	1.00[EUR][1000 genomes]
rs10932259	1.00[EUR][1000 genomes]
rs11677618	1.00[EUR][1000 genomes]
rs11691208	1.00[EUR][1000 genomes]
rs11695873	1.00[EUR][1000 genomes]
rs12185547	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12465862	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478198	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12479282	1.00[EUR][1000 genomes]
rs12617521	1.00[EUR][1000 genomes]
rs12618837	1.00[EUR][1000 genomes]
rs12621871	1.00[EUR][1000 genomes]
rs12623816	1.00[EUR][1000 genomes]
rs12694105	1.00[EUR][1000 genomes]
rs12694109	1.00[EUR][1000 genomes]
rs13394932	0.86[AFR][1000 genomes]
rs1370370	1.00[EUR][1000 genomes]
rs1437414	1.00[EUR][1000 genomes]
rs1446320	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446321	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465803	1.00[EUR][1000 genomes]
rs1465804	1.00[EUR][1000 genomes]
rs1529979	1.00[EUR][1000 genomes]
rs1561240	1.00[EUR][1000 genomes]
rs16840898	1.00[EUR][1000 genomes]
rs16840910	1.00[EUR][1000 genomes]
rs16840936	1.00[EUR][1000 genomes]
rs1838794	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838795	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838796	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866044	1.00[EUR][1000 genomes]
rs1866045	1.00[EUR][1000 genomes]
rs2028146	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2043720	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044457	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118296	1.00[EUR][1000 genomes]
rs2118297	1.00[EUR][1000 genomes]
rs2304544	1.00[EUR][1000 genomes]
rs2363468	1.00[EUR][1000 genomes]
rs2363469	1.00[EUR][1000 genomes]
rs2363579	1.00[EUR][1000 genomes]
rs2885785	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2885786	1.00[EUR][1000 genomes]
rs35940089	1.00[ASN][1000 genomes]
rs4673385	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673386	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4673388	0.96[AFR][1000 genomes]
rs4673390	1.00[EUR][1000 genomes]
rs4673395	1.00[EUR][1000 genomes]
rs4675745	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675747	1.00[EUR][1000 genomes]
rs4675750	1.00[EUR][1000 genomes]
rs4675754	1.00[EUR][1000 genomes]
rs4675755	1.00[EUR][1000 genomes]
rs57553077	1.00[EUR][1000 genomes]
rs57797425	1.00[EUR][1000 genomes]
rs6435436	1.00[EUR][1000 genomes]
rs6435437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6435441	1.00[EUR][1000 genomes]
rs6435443	1.00[EUR][1000 genomes]
rs6435444	1.00[EUR][1000 genomes]
rs6435445	1.00[EUR][1000 genomes]
rs6435446	1.00[EUR][1000 genomes]
rs6435450	1.00[EUR][1000 genomes]
rs6705163	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708926	1.00[EUR][1000 genomes]
rs6711933	1.00[EUR][1000 genomes]
rs6713477	1.00[EUR][1000 genomes]
rs6718402	1.00[EUR][1000 genomes]
rs6733607	1.00[EUR][1000 genomes]
rs6734963	1.00[EUR][1000 genomes]
rs6742461	1.00[EUR][1000 genomes]
rs6751982	1.00[EUR][1000 genomes]
rs6754478	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7564882	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569723	1.00[EUR][1000 genomes]
rs7574324	1.00[EUR][1000 genomes]
rs7576852	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580715	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581075	1.00[EUR][1000 genomes]
rs7605498	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893253	1.00[EUR][1000 genomes]
rs893255	1.00[EUR][1000 genomes]
rs893256	1.00[EUR][1000 genomes]
rs9283521	1.00[EUR][1000 genomes]
rs934712	1.00[EUR][1000 genomes]
rs934714	1.00[EUR][1000 genomes]
rs959855	1.00[EUR][1000 genomes]
rs976247	1.00[EUR][1000 genomes]
rs994696	1.00[EUR][1000 genomes]
rs994697	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209129600-209132000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:209129800-209131400	Active TSS	Colonic Mucosa	Colon
3	chr2:209129800-209131600	Active TSS	Esophagus	oesophagus
4	chr2:209129800-209132800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:209129800-209132800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:209129800-209133000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr2:209129800-209133000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:209130000-209131800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:209130000-209132000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:209130000-209132200	Active TSS	Aorta	Aorta
11	chr2:209130000-209132200	Active TSS	Right Ventricle	heart
12	chr2:209130000-209132400	Active TSS	Psoas Muscle	Psoas
13	chr2:209130000-209132600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:209130000-209132600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:209130000-209132600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:209130000-209132800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:209130000-209132800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:209130000-209132800	Active TSS	Ovary	ovary
19	chr2:209130200-209131600	Active TSS	Brain Angular Gyrus	brain
20	chr2:209130200-209131600	Active TSS	Brain Anterior Caudate	brain
21	chr2:209130200-209131600	Active TSS	Brain Cingulate Gyrus	brain
22	chr2:209130200-209131600	Active TSS	Pancreas	Pancrea
23	chr2:209130200-209131600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:209130200-209131600	Active TSS	Rectal Smooth Muscle	rectum
25	chr2:209130200-209131800	Active TSS	Brain Germinal Matrix	brain
26	chr2:209130200-209131800	Active TSS	Brain Hippocampus Middle	brain
27	chr2:209130200-209131800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:209130200-209131800	Active TSS	Brain Substantia Nigra	brain
29	chr2:209130200-209131800	Active TSS	Gastric	stomach
30	chr2:209130200-209131800	Active TSS	Left Ventricle	heart
31	chr2:209130200-209131800	Active TSS	Placenta Amnion	Placenta Amnion
32	chr2:209130200-209132000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:209130200-209132000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:209130200-209132000	Active TSS	Fetal Muscle Trunk	muscle
35	chr2:209130200-209132000	Bivalent/Poised TSS	HepG2	liver
36	chr2:209130200-209132200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:209130200-209132200	Active TSS	Fetal Intestine Small	intestine
38	chr2:209130200-209132200	Active TSS	A549	lung
39	chr2:209130200-209132400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:209130200-209132400	Active TSS	Fetal Intestine Large	intestine
41	chr2:209130200-209132400	Active TSS	Right Atrium	heart
42	chr2:209130200-209132400	Active TSS	Dnd41	blood
43	chr2:209130200-209132600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:209130200-209132600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr2:209130200-209132600	Active TSS	Colon Smooth Muscle	Colon
46	chr2:209130200-209132800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:209130200-209132800	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:209130200-209132800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:209130200-209133400	Active TSS	K562	blood
50	chr2:209130400-209131400	Active TSS	Fetal Brain Female	brain

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