Variant report

Variant	rs7971312
Chromosome Location	chr12:46649944-46649945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46518335..46521128-chr12:46649693..46651231,2	MCF-7	breast:
2	chr12:46642422..46645010-chr12:46649557..46651761,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000405	0.87[EUR][1000 genomes]
rs10880944	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11504510	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12299843	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12303214	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12580460	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492893	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1492897	0.88[EUR][1000 genomes]
rs2408495	0.84[EUR][1000 genomes]
rs3847985	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4445700	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4768109	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768692	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4768693	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56988021	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7312682	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7957777	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7959095	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7960819	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7967629	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs973988	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46592800-46654200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:46597600-46659600	Weak transcription	Colonic Mucosa	Colon
3	chr12:46615800-46653800	Weak transcription	NH-A	brain
4	chr12:46616000-46650400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:46616400-46653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:46617000-46653000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:46618400-46653800	Weak transcription	HSMMtube	muscle
8	chr12:46622400-46650800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:46629400-46650600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:46629600-46650400	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:46632800-46650800	Weak transcription	Brain Germinal Matrix	brain
12	chr12:46633600-46653800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:46635200-46653600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:46635600-46654000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:46635600-46660000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr12:46635800-46653800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr12:46640200-46650400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr12:46640200-46651200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:46640400-46653600	Weak transcription	Psoas Muscle	Psoas
20	chr12:46640400-46660600	Weak transcription	Aorta	Aorta
21	chr12:46640600-46650200	Weak transcription	Thymus	Thymus
22	chr12:46640600-46650800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:46640600-46651400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:46641000-46650200	Weak transcription	Fetal Intestine Small	intestine
25	chr12:46644400-46650600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:46645000-46652000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:46645200-46659600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:46645400-46650400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:46645600-46651200	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:46645800-46650000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:46645800-46650200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr12:46646000-46651200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:46646200-46653200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:46646200-46653800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:46646400-46650400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:46646600-46650800	Strong transcription	NHEK	skin
37	chr12:46646600-46652200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr12:46646800-46650800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:46646800-46651000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:46647200-46650800	Weak transcription	GM12878-XiMat	blood
41	chr12:46647800-46650600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:46648000-46650200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:46648000-46653400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:46648200-46651000	Weak transcription	A549	lung
45	chr12:46648200-46651600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:46648400-46651400	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr12:46648400-46654000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:46648400-46655200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:46648400-46658400	Weak transcription	HUVEC	blood vessel
50	chr12:46648600-46650200	Weak transcription	HMEC	breast

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