Variant report

Variant	rs34413287
Chromosome Location	chr12:11323015-11323016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:11322944-11323267	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:11091072..11093170-chr12:11322389..11325259,3	MCF-7	breast:
2	chr12:11321289..11323850-chr12:11635988..11637922,2	MCF-7	breast:
3	chr12:10365255..10367563-chr12:11322614..11325373,2	K562	blood:
4	chr12:11307789..11310150-chr12:11322132..11323842,2	MCF-7	breast:
5	chr12:11322782..11326787-chr12:11332516..11335699,5	K562	blood:
6	chr12:11321748..11327565-chr12:11327784..11333912,14	MCF-7	breast:
7	chr12:11305963..11307778-chr12:11320595..11323061,2	MCF-7	breast:
8	chr12:11305022..11306977-chr12:11320566..11323484,2	MCF-7	breast:
9	chr12:11322432..11324431-chr12:72056353..72059109,2	MCF-7	breast:
10	chr12:10961808..10964056-chr12:11322515..11324346,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000256537	TF binding region
ENSG00000121381	Chromatin interaction
ENSG00000255958	Chromatin interaction
ENSG00000212127	Chromatin interaction
ENSG00000139112	Chromatin interaction
ENSG00000133858	Chromatin interaction
ENSG00000173451	Chromatin interaction
ENSG00000256629	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1047709	0.96[ASN][1000 genomes]
rs1047712	0.93[ASN][1000 genomes]
rs1349553	0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1451766	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1451774	0.92[ASN][1000 genomes]
rs1551193	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17817150	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1863848	0.94[ASN][1000 genomes]
rs2290318	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290319	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2416548	0.96[ASN][1000 genomes]
rs2416549	0.95[ASN][1000 genomes]
rs34134804	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34272839	0.92[ASN][1000 genomes]
rs34274000	0.88[EUR][1000 genomes]
rs34373518	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34648613	0.92[ASN][1000 genomes]
rs34666803	0.96[AFR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34708147	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34708266	0.82[EUR][1000 genomes]
rs34949195	0.92[ASN][1000 genomes]
rs35097305	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs35128418	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs35376087	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35470561	0.88[AFR][1000 genomes]
rs35499317	0.92[ASN][1000 genomes]
rs35650731	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35746980	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35969491	0.92[ASN][1000 genomes]
rs3863325	0.92[ASN][1000 genomes]
rs3911234	0.92[ASN][1000 genomes]
rs4101885	0.92[ASN][1000 genomes]
rs4583064	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763627	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4763628	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4763629	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs5020531	0.92[ASN][1000 genomes]
rs6488346	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6488357	0.92[ASN][1000 genomes]
rs6488358	0.92[ASN][1000 genomes]
rs66815414	0.88[AFR][1000 genomes]
rs66840927	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67471783	0.92[ASN][1000 genomes]
rs67789293	0.88[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67955183	0.92[ASN][1000 genomes]
rs67961444	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs68186227	0.84[EUR][1000 genomes]
rs7132674	0.92[ASN][1000 genomes]
rs7136602	0.92[ASN][1000 genomes]
rs71453440	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7302711	0.92[ASN][1000 genomes]
rs7303105	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7316032	0.96[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7350611	0.94[ASN][1000 genomes]
rs7488095	0.96[ASN][1000 genomes]
rs7488102	0.93[ASN][1000 genomes]
rs7974964	0.96[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7976950	0.92[ASN][1000 genomes]
rs7980677	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv1038277	chr12:11060978-11504091	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv898783	chr12:11185236-11338781	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv898784	chr12:11188140-11341521	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1050050	chr12:11192046-11436359	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1053783	chr12:11203509-11495584	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv1807067	chr12:11214215-11568895	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1042134	chr12:11220712-11328131	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs34413287	TAS2R31	cis	lung	GTEx
rs34413287	PRR4	cis	lung	GTEx
rs34413287	TAS2R14	cis	brain	BrainEAC
rs34413287	TAS2R20	cis	Muscle Skeletal	GTEx
rs34413287	PRR4	cis	Esophagus Muscularis	GTEx
rs34413287	TAS2R31	cis	cerebellar cortex	BrainEAC
rs34413287	RP11-434C1.1	cis	Heart Left Ventricle	GTEx
rs34413287	TAS2R64P	cis	Nerve Tibial	GTEx
rs34413287	PRR4	cis	Thyroid	GTEx
rs34413287	TAS2R31	cis	brain	BrainEAC
rs34413287	TAS2R20	cis	lung	GTEx
rs34413287	PRR4	cis	Heart Left Ventricle	GTEx
rs34413287	RP11-434C1.1	cis	Artery Tibial	GTEx
rs34413287	TAS2R20	cis	Skin Sun Exposed Lower leg	GTEx
rs34413287	TAS2R43	cis	lung	GTEx
rs34413287	TAS2R43	cis	Thyroid	GTEx
rs34413287	RP11-434C1.1	cis	lung	GTEx
rs34413287	TAS2R14	cis	Artery Tibial	GTEx
rs34413287	RP11-434C1.1	cis	Muscle Skeletal	GTEx
rs34413287	PRR4	cis	Muscle Skeletal	GTEx
rs34413287	TAS2R14	cis	Muscle Skeletal	GTEx
rs34413287	TAS2R64P	cis	Thyroid	GTEx
rs34413287	TAS2R14	cis	cerebellar cortex	BrainEAC
rs34413287	PRR4	cis	Artery Tibial	GTEx
rs34413287	TAS2R20	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11270400-11323200	Weak transcription	Fetal Kidney	kidney
2	chr12:11301600-11323200	Weak transcription	Colonic Mucosa	Colon
3	chr12:11302600-11323200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:11303800-11323600	Weak transcription	Esophagus	oesophagus
5	chr12:11304000-11323200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:11304000-11323200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:11304000-11323600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:11312000-11323400	Weak transcription	Stomach Mucosa	stomach
9	chr12:11313800-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:11313800-11323600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:11319200-11323200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:11319200-11323400	Weak transcription	Placenta	Placenta
13	chr12:11319200-11323600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:11319200-11323600	Weak transcription	Lung	lung
15	chr12:11319600-11323200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:11319600-11323600	Weak transcription	Ovary	ovary
17	chr12:11319600-11323800	Weak transcription	Spleen	Spleen
18	chr12:11321000-11323200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr12:11321000-11323400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:11321200-11323200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:11321200-11323200	Enhancers	Brain Substantia Nigra	brain
22	chr12:11321200-11323200	Enhancers	Fetal Brain Male	brain
23	chr12:11321200-11323200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr12:11321200-11323400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr12:11321200-11323400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr12:11321200-11323400	Enhancers	Left Ventricle	heart
27	chr12:11321200-11323600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr12:11321400-11323200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr12:11321600-11323200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:11321600-11323200	Enhancers	Adipose Nuclei	Adipose
31	chr12:11321600-11323200	Enhancers	Fetal Stomach	stomach
32	chr12:11321600-11323600	Enhancers	Small Intestine	intestine
33	chr12:11321800-11323200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr12:11321800-11323400	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:11321800-11323400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:11321800-11323800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:11322000-11323200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:11322000-11323200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:11322000-11323200	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr12:11322000-11323200	Enhancers	Colon Smooth Muscle	Colon
41	chr12:11322000-11323400	Enhancers	Pancreas	Pancrea
42	chr12:11322200-11323200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr12:11322200-11323200	Weak transcription	Right Atrium	heart
44	chr12:11322200-11323200	Enhancers	Right Ventricle	heart
45	chr12:11322200-11323200	Enhancers	NH-A	brain
46	chr12:11322200-11323200	Enhancers	Osteobl	bone
47	chr12:11322200-11323400	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:11322200-11323400	Weak transcription	Aorta	Aorta
49	chr12:11322200-11326000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:11322400-11323200	Enhancers	Fetal Intestine Small	intestine

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