Variant report

Variant	rs35906870
Chromosome Location	chr12:31561154-31561155
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10771828	0.80[AMR][1000 genomes]
rs10843942	0.80[AMR][1000 genomes]
rs11051418	0.80[AMR][1000 genomes]
rs11615961	0.80[AMR][1000 genomes]
rs1259386	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1259389	0.82[EUR][1000 genomes]
rs1469673	0.80[AMR][1000 genomes]
rs1716194	0.81[EUR][1000 genomes]
rs2116704	0.80[AMR][1000 genomes]
rs2568884	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2568887	0.84[ASN][1000 genomes]
rs2568894	0.86[ASN][1000 genomes]
rs2604052	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2617190	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2682671	0.84[ASN][1000 genomes]
rs2682674	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2682680	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2682695	0.84[ASN][1000 genomes]
rs2682697	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2682700	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4931488	0.80[AMR][1000 genomes]
rs6416254	0.80[AMR][1000 genomes]
rs66521153	0.80[AMR][1000 genomes]
rs708200	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs708209	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs708212	0.98[ASN][1000 genomes]
rs708214	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs708215	0.87[ASN][1000 genomes]
rs708217	0.87[ASN][1000 genomes]
rs708219	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7134365	0.80[AMR][1000 genomes]
rs71440988	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7294574	0.80[AMR][1000 genomes]
rs7302698	0.80[AMR][1000 genomes]
rs7303447	0.80[AMR][1000 genomes]
rs7303848	0.81[AMR][1000 genomes]
rs7314417	0.80[AMR][1000 genomes]
rs792875	0.87[ASN][1000 genomes]
rs793146	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs793148	0.84[ASN][1000 genomes]
rs793149	0.84[ASN][1000 genomes]
rs793150	0.87[ASN][1000 genomes]
rs793154	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs793157	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs793158	0.91[ASN][1000 genomes]
rs793161	0.87[ASN][1000 genomes]
rs793180	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs793184	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7959877	0.80[AMR][1000 genomes]
rs7962896	0.80[AMR][1000 genomes]
rs7968291	0.80[AMR][1000 genomes]
rs7975761	0.80[AMR][1000 genomes]
rs809407	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs899159	0.86[EUR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
5	esv1836923	chr12:31539122-31761172	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31536400-31624600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:31536600-31577400	Weak transcription	Small Intestine	intestine
3	chr12:31537400-31604800	Weak transcription	Spleen	Spleen
4	chr12:31537600-31580800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:31537800-31572400	Weak transcription	Stomach Mucosa	stomach
6	chr12:31538600-31563400	Weak transcription	Colonic Mucosa	Colon
7	chr12:31539800-31584800	Weak transcription	Fetal Heart	heart
8	chr12:31540400-31565200	Weak transcription	HUVEC	blood vessel
9	chr12:31540800-31563400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:31540800-31565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:31540800-31572200	Weak transcription	Lung	lung
12	chr12:31540800-31573200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:31540800-31576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:31542000-31578400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:31542200-31566000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:31542200-31583600	Weak transcription	Placenta	Placenta
17	chr12:31542400-31564600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:31542400-31565400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:31542400-31571200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:31542400-31645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:31542600-31605800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:31542800-31575400	Weak transcription	Fetal Brain Male	brain
23	chr12:31542800-31578800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr12:31544200-31579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:31544400-31581400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:31544600-31584200	Weak transcription	Fetal Lung	lung
27	chr12:31544800-31565000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:31544800-31576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:31545800-31583600	Weak transcription	Psoas Muscle	Psoas
30	chr12:31548800-31566200	Weak transcription	Fetal Kidney	kidney
31	chr12:31549800-31561800	Weak transcription	Brain Angular Gyrus	brain
32	chr12:31549800-31618000	Weak transcription	Pancreas	Pancrea
33	chr12:31550800-31573200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:31551400-31561800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:31551600-31564800	Weak transcription	Fetal Muscle Leg	muscle
36	chr12:31553000-31565000	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:31555000-31565400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:31555200-31561600	Weak transcription	Fetal Brain Female	brain
39	chr12:31555200-31566200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:31555400-31565000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:31555400-31565400	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:31555600-31561600	Weak transcription	Adipose Nuclei	Adipose
43	chr12:31555600-31561800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:31555600-31571200	Weak transcription	Aorta	Aorta
45	chr12:31555600-31579600	Weak transcription	HepG2	liver
46	chr12:31556200-31562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:31556200-31564600	Weak transcription	HSMMtube	muscle
48	chr12:31556200-31566200	Weak transcription	HSMM	muscle
49	chr12:31556200-31574000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:31556200-31584800	Weak transcription	NHDF-Ad	bronchial

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