Variant report

Variant	rs71455661
Chromosome Location	chr12:31520014-31520015
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12812141	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12816386	0.82[EUR][1000 genomes]
rs1879399	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34007930	0.82[EUR][1000 genomes]
rs34642866	0.82[EUR][1000 genomes]
rs34955459	0.82[EUR][1000 genomes]
rs35029695	0.80[EUR][1000 genomes]
rs4931485	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56183451	0.82[EUR][1000 genomes]
rs56327034	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66552209	0.81[EUR][1000 genomes]
rs68030436	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31480000-31522800	Weak transcription	Right Atrium	heart
2	chr12:31515600-31522400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:31515600-31522800	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:31515800-31522800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:31516000-31521800	Weak transcription	Fetal Lung	lung
6	chr12:31516000-31521800	Weak transcription	Hela-S3	cervix
7	chr12:31516000-31523600	Weak transcription	Spleen	Spleen
8	chr12:31516200-31521200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:31516200-31521600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:31516200-31521600	Weak transcription	Lung	lung
11	chr12:31516200-31521800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:31516400-31521600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:31516400-31522400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr12:31516400-31522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:31516400-31522600	Weak transcription	NHEK	skin
16	chr12:31516400-31523200	Weak transcription	K562	blood
17	chr12:31516600-31521400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:31516600-31521800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:31516600-31521800	Weak transcription	Placenta	Placenta
20	chr12:31516600-31523200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:31516800-31521000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:31516800-31521400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:31516800-31521400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:31516800-31521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:31516800-31521600	Weak transcription	Stomach Mucosa	stomach
26	chr12:31516800-31521600	Weak transcription	A549	lung
27	chr12:31516800-31522200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr12:31517000-31521400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:31517000-31521600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:31517000-31521600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr12:31517000-31521600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:31517000-31521800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:31517000-31522000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:31517200-31520800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:31517200-31521400	Weak transcription	Fetal Kidney	kidney
36	chr12:31517200-31521600	Weak transcription	Fetal Intestine Large	intestine
37	chr12:31517200-31521600	Weak transcription	Fetal Intestine Small	intestine
38	chr12:31517200-31521600	Weak transcription	Fetal Thymus	thymus
39	chr12:31517200-31522800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr12:31517400-31521000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:31517400-31521800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr12:31518000-31521600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:31518200-31521400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:31518200-31521400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:31518200-31522600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:31519800-31521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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