Variant report

Variant	rs17433172
Chromosome Location	chr2:73303994-73303995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73302809..73306737-chr2:73311058..73314272,4	K562	blood:
2	chr2:73297623..73300370-chr2:73303769..73308752,6	MCF-7	breast:
3	chr2:73298507..73301632-chr2:73302873..73306092,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135631	Chromatin interaction
ENSG00000144040	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs17348624	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17348638	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17504663	0.88[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17504810	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17511570	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17570040	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[CHB][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17570432	0.88[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4143146	0.86[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs55633543	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55768189	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55801301	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55854246	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55881165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55938508	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56026282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56088054	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56161051	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56214999	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56280862	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57522927	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57666506	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs57868938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6706065	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73943009	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73943014	0.87[EUR][1000 genomes]
rs73943015	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73943016	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73943017	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73943034	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73943035	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73943036	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73943408	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73943410	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73945731	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73945733	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73945734	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73945735	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73945740	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002295	chr2:73216155-73350391	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73299200-73314800	Weak transcription	Small Intestine	intestine
2	chr2:73299400-73306800	Weak transcription	Fetal Brain Male	brain
3	chr2:73299400-73314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr2:73299400-73314800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:73299400-73318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:73299400-73318400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:73299600-73305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:73299600-73305600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:73299600-73306400	Weak transcription	Brain Anterior Caudate	brain
10	chr2:73299600-73306600	Weak transcription	Brain Angular Gyrus	brain
11	chr2:73299600-73306600	Weak transcription	Left Ventricle	heart
12	chr2:73299600-73307600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr2:73299600-73307800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:73299600-73312600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:73299600-73314200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:73299600-73314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr2:73299600-73314800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:73299600-73315400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:73299600-73316000	Weak transcription	NHDF-Ad	bronchial
20	chr2:73299600-73319400	Weak transcription	K562	blood
21	chr2:73299800-73307600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:73299800-73308000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:73299800-73311200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:73299800-73314800	Weak transcription	Brain Substantia Nigra	brain
25	chr2:73299800-73314800	Weak transcription	HSMM	muscle
26	chr2:73300000-73305400	Strong transcription	Osteobl	bone
27	chr2:73300000-73307800	Strong transcription	Placenta	Placenta
28	chr2:73300000-73308800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:73300000-73312200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:73300000-73319200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:73300200-73306200	Weak transcription	HUVEC	blood vessel
32	chr2:73300200-73308000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:73300200-73312000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:73300200-73314200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:73300400-73304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:73300400-73310800	Weak transcription	Liver	Liver
37	chr2:73300600-73305000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:73300600-73308000	Strong transcription	NHEK	skin
39	chr2:73300600-73308400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:73300600-73310400	Strong transcription	Fetal Intestine Small	intestine
41	chr2:73300600-73312600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:73300600-73313000	Strong transcription	Fetal Stomach	stomach
43	chr2:73300800-73311800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:73301200-73304400	Strong transcription	Pancreas	Pancrea
45	chr2:73301400-73304200	Strong transcription	Fetal Brain Female	brain
46	chr2:73301400-73305600	Strong transcription	NH-A	brain
47	chr2:73301400-73308200	Strong transcription	NHLF	lung
48	chr2:73301600-73304200	Strong transcription	Fetal Intestine Large	intestine
49	chr2:73301800-73306800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:73302000-73308000	Strong transcription	HepG2	liver

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