Variant report

Variant	rs917433
Chromosome Location	chr2:234762738-234762739
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234762685..234763322-chr22:37595016..37595706,2	NB4	blood:
2	chr2:234761504..234764477-chr2:234824983..234827662,2	MCF-7	breast:
3	chr2:234760939..234763453-chr2:235403879..235406192,2	K562	blood:
4	chr1:192778136..192778641-chr2:234762703..234763332,2	Hela-S3	cervix:
5	chr2:234473931..234475939-chr2:234762064..234763860,2	K562	blood:
6	chr2:234387565..234390486-chr2:234761608..234763193,2	MCF-7	breast:
7	chr2:233739634..233741752-chr2:234762062..234763820,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144481	Chromatin interaction
ENSG00000085982	Chromatin interaction
ENSG00000188042	Chromatin interaction
ENSG00000133466	Chromatin interaction
ENSG00000116741	Chromatin interaction
ENSG00000182600	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10187654	0.80[ASN][1000 genomes]
rs10929309	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10929312	0.93[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10929314	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11563066	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11563227	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12997802	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13016127	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13016553	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1392606	0.96[CEU][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2159200	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2286430	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2286431	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2302155	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3732215	0.93[CEU][hapmap];0.91[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6760630	0.80[ASN][1000 genomes]
rs7567475	0.93[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs887061	0.93[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs917432	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs917434	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs968402	0.88[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap]
rs990418	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv876023	chr2:234726154-234763137	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234760400-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:234760800-234762800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:234760800-234762800	Flanking Active TSS	Thymus	Thymus
4	chr2:234760800-234763000	Flanking Active TSS	Brain Germinal Matrix	brain
5	chr2:234761200-234762800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr2:234761200-234763600	Active TSS	NHLF	lung
7	chr2:234761200-234764000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:234761400-234763800	Active TSS	NHDF-Ad	bronchial
9	chr2:234761400-234764000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr2:234761600-234762800	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr2:234761600-234762800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:234761600-234762800	Flanking Active TSS	Fetal Stomach	stomach
13	chr2:234761600-234763000	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr2:234761600-234763600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:234761600-234763600	Active TSS	Hela-S3	cervix
16	chr2:234761600-234763800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr2:234761600-234763800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:234761600-234763800	Active TSS	Fetal Kidney	kidney
19	chr2:234761600-234763800	Active TSS	GM12878-XiMat	blood
20	chr2:234761800-234762800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr2:234761800-234762800	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr2:234761800-234763000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr2:234761800-234763000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr2:234761800-234763400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:234761800-234763600	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:234761800-234763800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:234761800-234763800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:234761800-234763800	Active TSS	Fetal Intestine Small	intestine
29	chr2:234761800-234763800	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:234761800-234764000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:234761800-234764000	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:234762000-234762800	Flanking Active TSS	Fetal Thymus	thymus
33	chr2:234762000-234763000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:234762000-234763000	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr2:234762000-234763600	Active TSS	Esophagus	oesophagus
36	chr2:234762000-234763800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr2:234762000-234763800	Active TSS	Fetal Intestine Large	intestine
38	chr2:234762000-234763800	Active TSS	HSMM	muscle
39	chr2:234762000-234764000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:234762000-234764000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr2:234762200-234762800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:234762200-234762800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr2:234762200-234763000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr2:234762200-234763000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr2:234762200-234763200	Flanking Active TSS	Placenta	Placenta
46	chr2:234762200-234763400	Bivalent/Poised TSS	HepG2	liver
47	chr2:234762200-234763400	Active TSS	NHEK	skin
48	chr2:234762200-234763600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr2:234762200-234763600	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:234762200-234763600	Active TSS	Muscle Satellite Cultured Cells	--

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