Variant report

Variant	rs212709
Chromosome Location	chr2:32453930-32453931
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32450716..32453123-chr2:32453250..32456033,3	MCF-7	breast:
2	chr2:32445227..32449129-chr2:32451328..32453997,4	K562	blood:
3	chr2:32449383..32452935-chr2:32453353..32456316,4	K562	blood:
4	chr2:32449383..32451061-chr2:32453847..32456316,2	K562	blood:
5	chr2:32451148..32452935-chr2:32453528..32455785,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs212697	0.87[EUR][1000 genomes]
rs212719	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs212750	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs216537	0.89[YRI][hapmap]
rs2365556	1.00[AMR][1000 genomes]
rs389734	0.87[EUR][1000 genomes]
rs420225	1.00[CEU][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs420731	0.91[LWK][hapmap]
rs449537	0.95[AFR][1000 genomes]
rs483796	1.00[CEU][hapmap]
rs552555	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs6543650	1.00[CEU][hapmap]
rs6543651	0.87[ASW][hapmap];0.89[YRI][hapmap]
rs6543652	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv833670	chr2:32295778-32481857	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS 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	38 gene(s)	inside rSNPs	diseases
5	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
6	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
7	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv2667	chr2:32444810-32489755	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32404200-32460600	Weak transcription	Esophagus	oesophagus
2	chr2:32424400-32455400	Weak transcription	Fetal Brain Male	brain
3	chr2:32426400-32455000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:32443000-32483600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:32443200-32483800	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:32445800-32461400	Weak transcription	Psoas Muscle	Psoas
7	chr2:32446200-32456400	Weak transcription	NHLF	lung
8	chr2:32447400-32483800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:32448200-32458400	Weak transcription	NHDF-Ad	bronchial
10	chr2:32448200-32460800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:32448200-32462400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:32448400-32474800	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:32448600-32460800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:32448800-32455200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:32448800-32455200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:32448800-32456600	Weak transcription	Pancreas	Pancrea
17	chr2:32448800-32457000	Weak transcription	HMEC	breast
18	chr2:32448800-32457800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:32448800-32459000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:32448800-32465400	Weak transcription	Osteobl	bone
21	chr2:32448800-32467000	Weak transcription	Left Ventricle	heart
22	chr2:32448800-32475600	Weak transcription	Lung	lung
23	chr2:32448800-32484800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr2:32449000-32454600	Weak transcription	Brain Germinal Matrix	brain
25	chr2:32449000-32459000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:32449000-32463200	Weak transcription	HSMMtube	muscle
27	chr2:32449600-32454000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:32449800-32455200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:32450600-32459400	Weak transcription	NHEK	skin
30	chr2:32451200-32454200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:32451200-32455200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:32451400-32455200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:32451400-32456800	Weak transcription	A549	lung
34	chr2:32451400-32457000	Weak transcription	Primary B cells from cord blood	blood
35	chr2:32451400-32462800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:32451400-32463200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr2:32451400-32466400	Weak transcription	Brain Hippocampus Middle	brain
38	chr2:32451600-32454600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:32451600-32454800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:32451600-32454800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:32451600-32454800	Weak transcription	Fetal Brain Female	brain
42	chr2:32451600-32455200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:32451600-32457600	Weak transcription	Ovary	ovary
44	chr2:32451600-32458400	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:32451600-32459400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:32451600-32459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:32451600-32459600	Weak transcription	Aorta	Aorta
48	chr2:32451600-32459600	Weak transcription	HSMM	muscle
49	chr2:32451600-32459800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:32451600-32459800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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