Variant report

Variant	rs17676243
Chromosome Location	chr2:173322809-173322810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173320023..173322995-chr2:173325583..173327892,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497383	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10497384	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1076596	0.82[YRI][hapmap]
rs11883720	1.00[JPT][hapmap]
rs11892037	0.82[AFR][1000 genomes]
rs11896937	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11897024	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12469788	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs12473999	0.94[CEU][hapmap]
rs1574258	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs17286988	1.00[JPT][hapmap]
rs17676773	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17677404	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs17727678	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17727732	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17739735	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17739946	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2178475	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2272498	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs36002642	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762620	0.81[AMR][1000 genomes]
rs3762621	0.81[AMR][1000 genomes]
rs3792255	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3792256	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3828342	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4074913	0.82[ASN][1000 genomes]
rs4972510	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4972511	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4972832	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4972837	0.82[AFR][1000 genomes]
rs55726436	0.80[EUR][1000 genomes]
rs6433358	0.83[CEU][hapmap]
rs6433359	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6433360	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6715294	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6717877	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6728123	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6728419	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6731691	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6755605	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72892573	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs72892577	0.82[ASN][1000 genomes]
rs72894396	0.82[AFR][1000 genomes]
rs7565670	0.83[CEU][hapmap]
rs7594889	0.88[CEU][hapmap]

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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173312200-173323600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:173313600-173323400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:173315200-173324800	Genic enhancers	NHEK	skin
4	chr2:173316200-173323400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:173316200-173323800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:173317000-173323800	Enhancers	Stomach Mucosa	stomach
7	chr2:173317200-173325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
10	chr2:173317800-173323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:173318800-173326200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:173319600-173324800	Enhancers	Fetal Thymus	thymus
14	chr2:173319800-173326400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:173320000-173325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:173320200-173326600	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:173320400-173324400	Weak transcription	HUVEC	blood vessel
18	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:173320800-173325400	Enhancers	HMEC	breast
20	chr2:173320800-173326200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:173321000-173324400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:173321000-173325400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:173321000-173326000	Weak transcription	HepG2	liver
24	chr2:173321000-173326400	Weak transcription	Right Ventricle	heart
25	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:173321200-173323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:173321200-173323200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:173321200-173324400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr2:173321200-173324400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:173321200-173324600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr2:173321200-173325200	Weak transcription	Hela-S3	cervix
32	chr2:173321200-173325400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr2:173321200-173325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:173321200-173325800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr2:173321200-173326200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:173321200-173326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:173321200-173326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
39	chr2:173321400-173323200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:173321400-173323200	Weak transcription	HSMM	muscle
41	chr2:173321400-173323800	Weak transcription	Esophagus	oesophagus
42	chr2:173321400-173323800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr2:173321400-173324400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:173321400-173324400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:173321400-173324400	Weak transcription	Pancreas	Pancrea
46	chr2:173321400-173325400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:173321400-173325400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr2:173321400-173325600	Weak transcription	Adipose Nuclei	Adipose
49	chr2:173321400-173325800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:173321400-173325800	Weak transcription	Brain Hippocampus Middle	brain

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