Variant report

Variant	rs6732633
Chromosome Location	chr2:55638697-55638698
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55633136..55639027-chr2:55639441..55643745,9	K562	blood:
2	chr2:55638580..55640592-chr2:55645857..55648376,2	MCF-7	breast:
3	chr2:55458173..55459835-chr2:55636615..55639548,2	K562	blood:

Variant related genes	Relation type
ENSG00000162994	Chromatin interaction
ENSG00000143947	Chromatin interaction
ENSG00000115355	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10182704	0.83[AFR][1000 genomes]
rs10184756	0.80[EUR][1000 genomes]
rs11125565	0.83[AFR][1000 genomes]
rs11125566	0.83[AFR][1000 genomes]
rs11125572	0.84[ASN][1000 genomes]
rs12612806	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12617891	0.81[AFR][1000 genomes]
rs12618216	0.83[ASN][1000 genomes]
rs12618795	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12623954	0.89[ASN][1000 genomes]
rs1454415	0.91[ASN][1000 genomes]
rs1454419	0.89[ASN][1000 genomes]
rs1454420	0.89[ASN][1000 genomes]
rs1454423	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1454424	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1545554	0.85[AFR][1000 genomes]
rs1902057	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1902058	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs1902061	0.81[ASN][1000 genomes]
rs2045132	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2045134	0.91[ASN][1000 genomes]
rs2045135	0.91[ASN][1000 genomes]
rs2045136	0.88[ASN][1000 genomes]
rs2123983	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2219130	0.80[EUR][1000 genomes]
rs2867178	0.80[EUR][1000 genomes]
rs2867179	0.80[EUR][1000 genomes]
rs2867194	0.80[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2903509	0.80[EUR][1000 genomes]
rs2903514	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3748943	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3762511	0.89[ASN][1000 genomes]
rs4277563	0.91[ASN][1000 genomes]
rs4481025	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4535081	0.83[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4672032	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4672033	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4672036	0.92[ASN][1000 genomes]
rs4672037	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4672038	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4672040	0.91[ASN][1000 genomes]
rs4672041	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4672043	0.84[ASN][1000 genomes]
rs4672044	0.84[ASN][1000 genomes]
rs6545489	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6545491	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6545492	0.91[ASN][1000 genomes]
rs6709204	0.80[EUR][1000 genomes]
rs6718909	0.83[AFR][1000 genomes]
rs6720698	0.92[ASN][1000 genomes]
rs6721593	0.91[ASN][1000 genomes]
rs6724840	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs6725968	0.83[AFR][1000 genomes]
rs6732759	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733814	0.91[ASN][1000 genomes]
rs6744426	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs6748979	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7424286	0.87[ASN][1000 genomes]
rs7557555	0.82[AFR][1000 genomes]
rs7557956	0.84[AFR][1000 genomes]
rs7579037	0.91[ASN][1000 genomes]
rs7586440	0.83[AFR][1000 genomes]
rs7601588	0.83[AFR][1000 genomes]
rs7602189	0.91[ASN][1000 genomes]
rs7606361	0.83[AFR][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:55579200-55640800	Weak transcription	Fetal Brain Male	brain
3	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
4	chr2:55589400-55639400	Weak transcription	Aorta	Aorta
5	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:55616800-55642600	Weak transcription	HUVEC	blood vessel
8	chr2:55618200-55639400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:55618200-55642400	Weak transcription	Fetal Lung	lung
10	chr2:55623200-55644400	Weak transcription	Fetal Kidney	kidney
11	chr2:55624400-55645600	Weak transcription	Ovary	ovary
12	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
13	chr2:55630400-55645800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:55630600-55644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:55630800-55642400	Weak transcription	Pancreas	Pancrea
16	chr2:55630800-55644800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:55630800-55645200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:55630800-55645200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:55631000-55639000	Weak transcription	A549	lung
20	chr2:55631000-55645400	Weak transcription	Placenta	Placenta
21	chr2:55631200-55642600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:55631400-55642600	Weak transcription	Right Ventricle	heart
23	chr2:55631600-55639200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr2:55631800-55645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:55632000-55644800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr2:55632600-55645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:55632800-55639200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:55632800-55640000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:55632800-55645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:55633000-55639400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:55633000-55645000	Weak transcription	Liver	Liver
32	chr2:55633000-55645800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:55633000-55645800	Weak transcription	Spleen	Spleen
34	chr2:55633000-55646000	Weak transcription	Lung	lung
35	chr2:55633200-55639400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:55633200-55639400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:55633200-55644800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:55633400-55639400	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:55633800-55639400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:55633800-55639400	Weak transcription	Left Ventricle	heart
41	chr2:55634000-55639200	Weak transcription	Hela-S3	cervix
42	chr2:55635400-55639600	Enhancers	Brain Angular Gyrus	brain
43	chr2:55636200-55644200	Weak transcription	Fetal Heart	heart
44	chr2:55636400-55642400	Weak transcription	Fetal Brain Female	brain
45	chr2:55636400-55642600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:55636600-55639200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:55636600-55639200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:55636600-55639200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:55636600-55640200	Weak transcription	NHDF-Ad	bronchial
50	chr2:55636600-55641000	Strong transcription	Fetal Thymus	thymus

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