Variant report

Variant	rs7564416
Chromosome Location	chr2:173322326-173322327
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:
2	chr2:173320793..173322566-chr2:173325005..173326952,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10207640	0.93[JPT][hapmap]
rs10207654	0.93[JPT][hapmap]
rs10208194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210544	0.88[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs1076594	0.80[ASN][1000 genomes]
rs11901314	0.90[YRI][hapmap];0.96[AFR][1000 genomes]
rs12052253	0.93[JPT][hapmap]
rs12613307	0.81[ASN][1000 genomes]
rs12621278	0.93[JPT][hapmap]
rs12622724	0.81[ASN][1000 genomes]
rs13387602	0.91[ASN][1000 genomes]
rs13410475	0.93[JPT][hapmap]
rs13421350	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1574256	0.93[JPT][hapmap]
rs1574259	0.86[JPT][hapmap]
rs16860416	0.89[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs16860426	1.00[JPT][hapmap]
rs16860438	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs16860515	0.86[JPT][hapmap]
rs28595036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762618	0.93[JPT][hapmap]
rs4405725	0.93[JPT][hapmap]
rs59360025	0.96[AFR][1000 genomes]
rs6726739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755175	0.90[YRI][hapmap];0.96[AFR][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	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:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173307400-173322400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:173310800-173322400	Weak transcription	Thymus	Thymus
3	chr2:173312200-173323600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:173313600-173323400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:173315200-173324800	Genic enhancers	NHEK	skin
6	chr2:173316000-173322800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr2:173316200-173323400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:173316200-173323800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173317000-173323800	Enhancers	Stomach Mucosa	stomach
10	chr2:173317200-173322600	Weak transcription	Brain Anterior Caudate	brain
11	chr2:173317200-173325400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:173317600-173326000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:173317600-173326000	Weak transcription	Brain Substantia Nigra	brain
14	chr2:173317800-173323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:173318200-173322600	Weak transcription	Psoas Muscle	Psoas
16	chr2:173318400-173322600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:173318800-173326200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr2:173319200-173330600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:173319600-173324800	Enhancers	Fetal Thymus	thymus
20	chr2:173319800-173326400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:173320000-173325400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:173320200-173326600	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:173320400-173324400	Weak transcription	HUVEC	blood vessel
24	chr2:173320600-173327200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:173320800-173325400	Enhancers	HMEC	breast
26	chr2:173320800-173326200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:173321000-173324400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr2:173321000-173325400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:173321000-173326000	Weak transcription	HepG2	liver
30	chr2:173321000-173326400	Weak transcription	Right Ventricle	heart
31	chr2:173321000-173328000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:173321200-173322400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:173321200-173322400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:173321200-173323200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr2:173321200-173323200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:173321200-173324400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:173321200-173324400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:173321200-173324600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr2:173321200-173325200	Weak transcription	Hela-S3	cervix
40	chr2:173321200-173325400	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr2:173321200-173325800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:173321200-173325800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:173321200-173326200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr2:173321200-173326200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:173321200-173326400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:173321200-173327400	Weak transcription	Small Intestine	intestine
47	chr2:173321400-173322400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:173321400-173322400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:173321400-173322400	Weak transcription	Fetal Lung	lung
50	chr2:173321400-173322600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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