Variant report

Variant	rs6433291
Chromosome Location	chr2:172295541-172295542
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr2:172295154-172295664	HEK293-T-REx	kidney:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172288399..172297381-chr2:172370978..172381493,22	K562	blood:
2	chr2:172294486..172297106-chr2:172372290..172374923,2	K562	blood:
3	chr2:172012919..172015830-chr2:172294656..172296953,2	K562	blood:
4	chr2:172287467..172293160-chr2:172293206..172300397,21	K562	blood:
5	chr2:172016674..172018402-chr2:172295165..172296770,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCAF17	TF binding region
METTL8	TF binding region
ENSG00000123600	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000233762	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10490604	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10515933	0.93[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs10930476	0.86[ASN][1000 genomes]
rs13384194	0.89[ASN][1000 genomes]
rs1476111	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17220419	0.96[CHD][hapmap];0.87[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs17220657	0.80[JPT][hapmap]
rs17220734	0.93[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs17221346	0.93[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17286415	0.93[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs28420126	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28742013	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3731982	0.96[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.81[MEX][hapmap];0.85[TSI][hapmap]
rs3731983	0.93[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs3795998	0.93[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs3821084	0.93[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs4458186	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs4496302	0.80[AMR][1000 genomes]
rs4522571	0.96[CHD][hapmap];0.90[GIH][hapmap];0.80[JPT][hapmap];0.85[TSI][hapmap]
rs4667689	0.83[ASN][1000 genomes]
rs4668385	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4668387	0.93[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]
rs55999882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57099324	0.81[ASN][1000 genomes]
rs58182652	0.90[ASN][1000 genomes]
rs58267868	0.90[ASN][1000 genomes]
rs62183464	0.80[EUR][1000 genomes]
rs62183492	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62183504	0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62183537	0.90[ASN][1000 genomes]
rs62183540	0.89[ASN][1000 genomes]
rs6433290	0.80[JPT][hapmap]
rs6433292	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6713612	0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6718740	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6741806	0.80[JPT][hapmap]
rs6743290	0.80[ASN][1000 genomes]
rs6751956	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7572334	0.81[ASN][1000 genomes]
rs7594714	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7598137	0.87[GIH][hapmap]
rs7600478	0.89[ASN][1000 genomes]
rs7606658	0.80[ASN][1000 genomes]
rs9789380	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs9789572	0.93[CHD][hapmap];0.90[GIH][hapmap];0.85[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv3349868	chr2:172276494-172302401	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291000-172319800	Weak transcription	Stomach Mucosa	stomach
2	chr2:172291400-172296200	Weak transcription	Lung	lung
3	chr2:172291400-172296200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:172291400-172296200	Weak transcription	Spleen	Spleen
5	chr2:172291400-172296400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:172291400-172296400	Weak transcription	Aorta	Aorta
7	chr2:172291400-172296400	Weak transcription	Small Intestine	intestine
8	chr2:172291400-172297800	Weak transcription	Esophagus	oesophagus
9	chr2:172291400-172297800	Weak transcription	Gastric	stomach
10	chr2:172291600-172296000	Weak transcription	Right Ventricle	heart
11	chr2:172291600-172297800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:172291600-172304000	Weak transcription	Pancreas	Pancrea
13	chr2:172291600-172305200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:172291600-172311800	Weak transcription	Fetal Brain Male	brain
15	chr2:172291800-172296400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:172291800-172296400	Weak transcription	Colonic Mucosa	Colon
17	chr2:172291800-172296600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:172291800-172297800	Weak transcription	HSMMtube	muscle
19	chr2:172291800-172300000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr2:172291800-172306400	Weak transcription	Psoas Muscle	Psoas
21	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:172292000-172296000	Weak transcription	Thymus	Thymus
23	chr2:172292000-172296400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:172292000-172297200	Weak transcription	NHLF	lung
25	chr2:172292000-172304400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:172292000-172312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:172292200-172297400	Weak transcription	Hela-S3	cervix
29	chr2:172292400-172296000	Weak transcription	Fetal Brain Female	brain
30	chr2:172292400-172296200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:172292400-172298600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr2:172292400-172299400	Strong transcription	Fetal Muscle Leg	muscle
33	chr2:172292400-172301200	Strong transcription	Placenta	Placenta
34	chr2:172292400-172301800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:172292600-172295800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr2:172292600-172297000	Weak transcription	Brain Substantia Nigra	brain
37	chr2:172292600-172297200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr2:172292600-172297400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:172292600-172298000	Strong transcription	Primary B cells from cord blood	blood
40	chr2:172292600-172298600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:172292600-172301200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:172292600-172301400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr2:172292600-172302000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:172292600-172302600	Strong transcription	Liver	Liver
45	chr2:172292600-172302800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:172292600-172307200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:172292600-172311600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:172292600-172312000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:172292600-172317600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:172292600-172320400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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