Variant report

Variant	rs746212
Chromosome Location	chr2:73165234-73165235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:73162556..73166677-chr2:73167380..73171144,3	MCF-7	breast:
2	chr2:73162249..73166255-chr2:73168252..73172179,4	MCF-7	breast:
3	chr2:73160542..73162204-chr2:73163804..73165713,2	MCF-7	breast:
4	chr2:73163209..73165515-chr2:73180521..73182965,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10185826	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs11126387	0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs12473812	0.82[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs12713779	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17008495	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898442	0.82[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs2077586	0.82[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2421097	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs34419497	0.88[ASN][1000 genomes]
rs56986198	0.88[ASN][1000 genomes]
rs6722190	0.90[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs999494	0.86[JPT][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv874266	chr2:73137991-73220138	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73159800-73169600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:73159800-73170600	Weak transcription	Aorta	Aorta
3	chr2:73160000-73166600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:73161400-73210200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr2:73161800-73167200	Weak transcription	Spleen	Spleen
6	chr2:73162000-73167400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:73162600-73166200	Enhancers	Fetal Brain Male	brain
8	chr2:73162600-73167600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:73162600-73169400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr2:73163600-73166800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:73163800-73169400	Weak transcription	Lung	lung
12	chr2:73163800-73170400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:73164000-73171200	Weak transcription	Brain Germinal Matrix	brain
14	chr2:73164200-73165400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:73164200-73179000	Weak transcription	Brain Hippocampus Middle	brain
16	chr2:73164400-73168600	Weak transcription	Liver	Liver
17	chr2:73164400-73182800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:73164400-73190600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr2:73164400-73192800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:73164400-73193000	Weak transcription	Ovary	ovary
21	chr2:73164400-73193600	Weak transcription	Brain Angular Gyrus	brain
22	chr2:73164600-73166200	Enhancers	Fetal Brain Female	brain
23	chr2:73164600-73166800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:73164600-73169200	Weak transcription	Gastric	stomach
25	chr2:73164600-73169400	Weak transcription	Right Ventricle	heart
26	chr2:73164800-73165800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:73164800-73167400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:73164800-73167600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:73164800-73170200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:73165000-73169000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:73165000-73175800	Weak transcription	Esophagus	oesophagus

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