Variant report

Variant	rs73317542
Chromosome Location	chr12:64961553-64961554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64960849..64962963-chr12:65011488..65013311,2	K562	blood:
2	chr12:64959032..64961860-chr12:64963161..64965792,2	K562	blood:
3	chr12:64950433..64954312-chr12:64959664..64962959,3	MCF-7	breast:
4	chr12:64948238..64950384-chr12:64959601..64961940,2	MCF-7	breast:
5	chr12:64955263..64957800-chr12:64960025..64962261,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506536	1.00[EUR][1000 genomes]
rs11175343	1.00[EUR][1000 genomes]
rs11175472	1.00[EUR][1000 genomes]
rs11175473	1.00[EUR][1000 genomes]
rs11175516	1.00[EUR][1000 genomes]
rs12304348	1.00[EUR][1000 genomes]
rs12304958	1.00[EUR][1000 genomes]
rs12314167	1.00[EUR][1000 genomes]
rs12321771	1.00[EUR][1000 genomes]
rs12322583	1.00[EUR][1000 genomes]
rs13377735	1.00[EUR][1000 genomes]
rs17100505	1.00[EUR][1000 genomes]
rs55657746	1.00[EUR][1000 genomes]
rs56271113	1.00[EUR][1000 genomes]
rs59998584	1.00[EUR][1000 genomes]
rs61228947	1.00[EUR][1000 genomes]
rs74098118	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64955400-64963000	Weak transcription	Brain Anterior Caudate	brain
2	chr12:64955600-64961600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:64959000-64961800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:64959000-64962600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:64959200-64963400	Enhancers	Placenta	Placenta
6	chr12:64959200-64966000	Enhancers	Fetal Muscle Leg	muscle
7	chr12:64959400-64961600	Enhancers	HSMMtube	muscle
8	chr12:64959400-64961800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:64960000-64961600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:64960000-64964800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:64960200-64961600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:64960200-64961600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:64960200-64961600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:64960200-64961600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr12:64960200-64961600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:64960200-64961600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:64960200-64963400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:64960200-64963400	Enhancers	Spleen	Spleen
19	chr12:64960400-64961600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr12:64960400-64961600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:64960400-64961800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:64960400-64962400	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:64960600-64961600	Enhancers	Stomach Mucosa	stomach
24	chr12:64960600-64961800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:64960600-64961800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:64960600-64962400	Enhancers	Primary T cells from cord blood	blood
27	chr12:64960600-64963000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:64960600-64963200	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr12:64960600-64963200	Enhancers	K562	blood
30	chr12:64960600-64963800	Enhancers	Duodenum Mucosa	Duodenum
31	chr12:64960600-64966400	Enhancers	Fetal Thymus	thymus
32	chr12:64960800-64961800	Enhancers	Pancreas	Pancrea
33	chr12:64960800-64961800	Bivalent Enhancer	HepG2	liver
34	chr12:64960800-64962600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr12:64960800-64963200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:64960800-64963400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr12:64960800-64964000	Enhancers	Hela-S3	cervix
38	chr12:64961000-64962400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:64961000-64963000	Weak transcription	Ovary	ovary
40	chr12:64961000-64963000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr12:64961000-64963400	Enhancers	Lung	lung
42	chr12:64961000-64965200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:64961200-64961800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:64961200-64961800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:64961200-64961800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr12:64961200-64962600	Enhancers	Primary T cells fromperipheralblood	blood
47	chr12:64961200-64962600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:64961200-64962800	Weak transcription	Psoas Muscle	Psoas
49	chr12:64961200-64963000	Weak transcription	Fetal Intestine Small	intestine
50	chr12:64961200-64963400	Enhancers	Left Ventricle	heart

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