Variant report

Variant	rs2288632
Chromosome Location	chr2:73448174-73448175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:73448142-73448372	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73448098..73451210-chr2:73461393..73463286,3	MCF-7	breast:
2	chr2:73440196..73443079-chr2:73443307..73449769,10	MCF-7	breast:

Variant related genes	Relation type
SMYD5	TF binding region
ENSG00000135632	Chromatin interaction
ENSG00000135624	Chromatin interaction

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

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

rs_ID	r²[population]
rs10048666	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10175626	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10185970	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10189022	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10193579	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	1.00[ASN][1000 genomes]
rs10195282	1.00[ASN][1000 genomes]
rs10198711	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.89[ASN][1000 genomes]
rs11888772	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902788	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13009208	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13415504	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13423796	0.89[ASN][1000 genomes]
rs13424035	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2043092	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28464603	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546576	1.00[JPT][hapmap]
rs57321619	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.89[ASN][1000 genomes]
rs7594590	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv2776	chr2:73431854-73482304	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73442000-73453800	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:73442200-73448800	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:73442200-73449000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:73442200-73453400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:73442200-73459600	Weak transcription	Right Atrium	heart
6	chr2:73442400-73451600	Weak transcription	Thymus	Thymus
7	chr2:73442400-73452400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:73442400-73459400	Weak transcription	Fetal Brain Male	brain
9	chr2:73442600-73448600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:73442600-73459600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:73442600-73459600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr2:73442600-73459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr2:73442800-73448400	Weak transcription	Fetal Thymus	thymus
14	chr2:73442800-73448600	Weak transcription	Fetal Kidney	kidney
15	chr2:73442800-73449400	Weak transcription	HUVEC	blood vessel
16	chr2:73442800-73449800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:73442800-73456400	Weak transcription	NH-A	brain
18	chr2:73442800-73459400	Weak transcription	Fetal Heart	heart
19	chr2:73442800-73459400	Weak transcription	Stomach Mucosa	stomach
20	chr2:73442800-73459600	Weak transcription	Small Intestine	intestine
21	chr2:73443000-73448200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:73443000-73448400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr2:73443000-73450200	Weak transcription	GM12878-XiMat	blood
24	chr2:73443000-73459600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:73444800-73456000	Strong transcription	HepG2	liver
26	chr2:73445000-73457600	Strong transcription	Fetal Intestine Small	intestine
27	chr2:73445200-73456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:73445400-73450800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:73445400-73453200	Strong transcription	Aorta	Aorta
30	chr2:73445400-73453400	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr2:73445400-73454000	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr2:73445400-73455000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:73445400-73455800	Strong transcription	Primary T cells from cord blood	blood
34	chr2:73445400-73456200	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr2:73445400-73457200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr2:73445400-73457600	Strong transcription	Fetal Stomach	stomach
37	chr2:73445600-73452200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:73445600-73452200	Strong transcription	Right Ventricle	heart
39	chr2:73445600-73453000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:73445600-73454600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:73445600-73455600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:73445600-73456200	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr2:73445600-73457200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:73445600-73457200	Strong transcription	Dnd41	blood
45	chr2:73445800-73449000	Weak transcription	HSMM	muscle
46	chr2:73445800-73451600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:73445800-73452600	Strong transcription	Lung	lung
48	chr2:73445800-73454200	Strong transcription	Ovary	ovary
49	chr2:73445800-73456000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:73445800-73457200	Strong transcription	Brain Anterior Caudate	brain

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