Variant report

Variant	rs7312483
Chromosome Location	chr12:32614849-32614850
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	chr12:32551449..32553036-chr12:32613533..32615483,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10743792	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10743793	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10771950	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771951	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771952	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771953	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771954	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10844208	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10844209	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10844210	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2728715	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs58048246	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58632707	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61927216	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6488058	0.82[AFR][1000 genomes]
rs7138653	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7297833	0.99[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs7309641	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7309975	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7310262	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs7310497	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7312780	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7314407	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7954700	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954906	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7954974	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7962302	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7966919	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7971819	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7977859	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979525	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9634114	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32601800-32629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:32606000-32623600	Weak transcription	Pancreas	Pancrea
5	chr12:32606000-32624600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:32606000-32624600	Weak transcription	Gastric	stomach
7	chr12:32606600-32616600	Weak transcription	Left Ventricle	heart
8	chr12:32606600-32624600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:32607400-32615200	Weak transcription	Aorta	Aorta
10	chr12:32608600-32629600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr12:32609000-32617000	Weak transcription	Ovary	ovary
12	chr12:32609200-32615200	Weak transcription	Psoas Muscle	Psoas
13	chr12:32609200-32619600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:32609400-32615200	Weak transcription	Right Ventricle	heart
15	chr12:32609400-32618600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr12:32609400-32623400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:32609600-32619200	Weak transcription	Fetal Stomach	stomach
18	chr12:32610000-32615000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:32610000-32615000	Weak transcription	HSMMtube	muscle
20	chr12:32610000-32623200	Weak transcription	Fetal Intestine Large	intestine
21	chr12:32610400-32618200	Weak transcription	Fetal Intestine Small	intestine
22	chr12:32610400-32618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:32610400-32628400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:32610600-32619200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:32610600-32621400	Weak transcription	Fetal Kidney	kidney
26	chr12:32610800-32615000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:32610800-32615400	Weak transcription	Fetal Heart	heart
28	chr12:32610800-32623800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:32610800-32624400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:32610800-32636400	Weak transcription	NHEK	skin
31	chr12:32610800-32639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:32611200-32621000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:32611200-32629000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:32611400-32615400	Weak transcription	HMEC	breast
35	chr12:32611400-32615600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr12:32611400-32616400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:32611400-32621000	Weak transcription	HUVEC	blood vessel
38	chr12:32611800-32615400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:32612800-32616200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:32613800-32616400	Enhancers	HepG2	liver
41	chr12:32614400-32615600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:32614400-32616400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:32614600-32615000	Active TSS	A549	lung
44	chr12:32614600-32615400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr12:32614600-32615600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:32614600-32615600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:32614600-32615600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr12:32614600-32615800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:32614600-32615800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:32614600-32621000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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