Variant report

Variant	rs34700615
Chromosome Location	chr2:64292301-64292302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64291575..64294023-chr2:64351680..64354001,2	MCF-7	breast:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10166971	0.81[EUR][1000 genomes]
rs10190776	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12463827	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12466966	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12468093	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12474366	0.83[EUR][1000 genomes]
rs12990604	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12996147	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12997303	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13005218	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13007342	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13007731	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13009774	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13014781	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13015703	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13023542	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13025640	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1437455	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1545196	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17562312	0.81[ASN][1000 genomes]
rs17701685	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17701709	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17752683	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2002443	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2422110	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34043307	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34196086	0.83[EUR][1000 genomes]
rs34683043	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35122209	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247801	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35648996	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35693031	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35810427	0.87[ASN][1000 genomes]
rs35939512	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35972278	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35975566	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4485552	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4671538	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4671540	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671541	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66476638	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66535980	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66650505	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66660401	0.82[ASN][1000 genomes]
rs66993685	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6759803	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71422402	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808248	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808254	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808262	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72808287	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72808296	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs874695	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs893779	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64289400-64293000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:64289600-64293000	Enhancers	NHEK	skin
3	chr2:64290000-64292800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:64290000-64292800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:64290000-64293000	Enhancers	Fetal Thymus	thymus
6	chr2:64290000-64293200	Enhancers	Placenta	Placenta
7	chr2:64290200-64292400	Enhancers	Thymus	Thymus
8	chr2:64290200-64292400	Enhancers	NHLF	lung
9	chr2:64290200-64292800	Enhancers	Primary T cells from cord blood	blood
10	chr2:64290200-64292800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:64290200-64292800	Enhancers	K562	blood
12	chr2:64290200-64293000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:64290200-64293000	Enhancers	HMEC	breast
14	chr2:64290600-64292800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr2:64290600-64293000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:64290600-64294800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr2:64290800-64292400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:64290800-64292600	Enhancers	Brain Anterior Caudate	brain
19	chr2:64290800-64293800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:64291000-64292600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:64291000-64292600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:64291000-64292600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:64291000-64292800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:64291000-64293200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:64291000-64294800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:64291200-64292600	Weak transcription	Esophagus	oesophagus
27	chr2:64291200-64292800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:64291200-64293000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:64291200-64294000	Weak transcription	Lung	lung
30	chr2:64291200-64294600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr2:64291400-64293400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:64291600-64292600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:64291600-64292600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:64291800-64292600	Weak transcription	Pancreas	Pancrea
35	chr2:64291800-64292600	Weak transcription	Small Intestine	intestine
36	chr2:64291800-64292800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:64291800-64292800	Enhancers	HUVEC	blood vessel
38	chr2:64291800-64293000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:64291800-64293000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr2:64291800-64293400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:64291800-64293400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:64291800-64293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:64291800-64294200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:64292000-64292400	Weak transcription	Right Ventricle	heart
45	chr2:64292000-64292600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:64292000-64292600	Enhancers	Brain Hippocampus Middle	brain
47	chr2:64292000-64292600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:64292000-64293000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:64292200-64293200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:64292200-64294400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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