Variant report

Variant	rs1465829
Chromosome Location	chr2:101019031-101019032
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101016960..101019506-chr2:101020404..101023355,2	K562	blood:
2	chr2:101018004..101019517-chr2:101023470..101025341,2	K562	blood:
3	chr2:101011844..101014323-chr2:101018753..101021911,3	K562	blood:
4	chr2:101005691..101009453-chr2:101017314..101020656,3	MCF-7	breast:
5	chr2:101018059..101019912-chr2:101021357..101024313,2	MCF-7	breast:
6	chr2:101016960..101020223-chr2:101021855..101026333,5	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10165326	0.89[ASN][1000 genomes]
rs10172841	0.85[CHD][hapmap]
rs10186689	0.81[ASN][1000 genomes]
rs10188009	0.81[ASN][1000 genomes]
rs10191099	0.81[ASN][1000 genomes]
rs10192741	0.81[ASN][1000 genomes]
rs10194087	0.81[ASN][1000 genomes]
rs10194280	0.81[ASN][1000 genomes]
rs10207566	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs10210458	0.81[ASN][1000 genomes]
rs1057056	0.85[CHD][hapmap]
rs1124009	0.85[CHD][hapmap]
rs11899975	0.81[ASN][1000 genomes]
rs11902829	0.92[ASN][1000 genomes]
rs13400841	0.85[CHD][hapmap]
rs13415850	0.81[ASN][1000 genomes]
rs17024023	0.81[ASN][1000 genomes]
rs17024153	0.96[ASN][1000 genomes]
rs17024203	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[ASN][1000 genomes]
rs17024207	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024209	0.85[CHD][hapmap]
rs1992174	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[ASN][1000 genomes]
rs2309799	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs2309801	0.85[CHD][hapmap]
rs28485289	0.81[ASN][1000 genomes]
rs28631885	0.81[ASN][1000 genomes]
rs2871338	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs3748934	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];1.00[ASN][1000 genomes]
rs3748936	0.85[CHD][hapmap]
rs3791358	0.85[CHD][hapmap]
rs4149509	0.85[CHD][hapmap]
rs4149514	0.85[CHD][hapmap]
rs4149515	0.85[CHD][hapmap]
rs4149522	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs57699256	0.81[ASN][1000 genomes]
rs57758873	0.92[ASN][1000 genomes]
rs58397194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs58552292	0.88[ASN][1000 genomes]
rs58742261	0.88[ASN][1000 genomes]
rs59193721	0.81[ASN][1000 genomes]
rs59388202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60458261	0.81[ASN][1000 genomes]
rs61429123	0.81[ASN][1000 genomes]
rs62148364	0.84[ASN][1000 genomes]
rs6542928	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6725672	0.85[CHD][hapmap]
rs6734881	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs6754869	0.85[CHD][hapmap]
rs6758622	0.85[CHD][hapmap]
rs72960174	0.86[ASN][1000 genomes]
rs7567130	1.00[CHB][hapmap]
rs7571659	0.85[CHD][hapmap]
rs7575422	0.85[CHD][hapmap]
rs995133	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv874701	chr2:100976139-101023261	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100998200-101022600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:101002000-101023400	Weak transcription	Psoas Muscle	Psoas
3	chr2:101003200-101021000	Weak transcription	K562	blood
4	chr2:101005600-101032800	Weak transcription	HUVEC	blood vessel
5	chr2:101005800-101033000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:101006000-101021600	Weak transcription	Colon Smooth Muscle	Colon
7	chr2:101006600-101023600	Strong transcription	Brain Germinal Matrix	brain
8	chr2:101006600-101031600	Strong transcription	Fetal Stomach	stomach
9	chr2:101007000-101025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:101007000-101027200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr2:101007200-101032000	Weak transcription	NHDF-Ad	bronchial
12	chr2:101007400-101021600	Weak transcription	HSMMtube	muscle
13	chr2:101007600-101023400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:101007600-101024200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:101007600-101030600	Weak transcription	NH-A	brain
16	chr2:101007800-101021200	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr2:101007800-101023800	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:101007800-101024000	Weak transcription	Liver	Liver
19	chr2:101008000-101033000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:101008400-101019200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:101008400-101025200	Weak transcription	Fetal Brain Male	brain
22	chr2:101009000-101022000	Weak transcription	Esophagus	oesophagus
23	chr2:101009200-101023600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:101009400-101026400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:101010000-101021800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:101010000-101022200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:101010000-101022200	Weak transcription	Fetal Kidney	kidney
28	chr2:101010200-101032800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:101010800-101022000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:101011000-101022200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:101011800-101020000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:101012000-101024000	Weak transcription	Fetal Heart	heart
33	chr2:101012400-101021600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:101013000-101021200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr2:101013200-101030400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:101013200-101033000	Weak transcription	Fetal Intestine Large	intestine
37	chr2:101013600-101020000	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr2:101013800-101019600	Weak transcription	Primary T cells from cord blood	blood
39	chr2:101013800-101021400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:101014400-101020200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:101014400-101033200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:101014800-101020400	Weak transcription	Fetal Intestine Small	intestine
43	chr2:101014800-101032400	Weak transcription	Hela-S3	cervix
44	chr2:101015600-101033000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:101015800-101024400	Strong transcription	Fetal Brain Female	brain
46	chr2:101015800-101024400	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:101016000-101023800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:101016200-101021200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:101016400-101023400	Strong transcription	Brain Cingulate Gyrus	brain
50	chr2:101016400-101028000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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