Variant report

Variant	rs11836973
Chromosome Location	chr12:83242912-83242913
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10047600	1.00[CHB][hapmap]
rs10047619	1.00[CHB][hapmap]
rs10082955	1.00[CHB][hapmap]
rs10506882	1.00[CHB][hapmap]
rs10778912	1.00[CHB][hapmap]
rs10862502	1.00[CHB][hapmap]
rs10862503	1.00[CHB][hapmap]
rs10862504	1.00[CHB][hapmap]
rs10862505	1.00[CHB][hapmap]
rs10862506	1.00[CHB][hapmap]
rs10862511	1.00[CHB][hapmap]
rs10862513	1.00[CHB][hapmap]
rs10862515	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11115388	1.00[CHB][hapmap]
rs11115405	1.00[CHB][hapmap]
rs11115406	1.00[CHB][hapmap]
rs11115407	1.00[CHB][hapmap]
rs11115408	1.00[CHB][hapmap]
rs11115409	1.00[CHB][hapmap]
rs11115413	1.00[CHB][hapmap]
rs11115414	1.00[CHB][hapmap]
rs11115416	1.00[CHB][hapmap]
rs11115418	1.00[CHB][hapmap]
rs11115431	1.00[CHB][hapmap]
rs11115435	1.00[CHB][hapmap]
rs11115445	1.00[CHB][hapmap]
rs11115447	1.00[CHB][hapmap]
rs11115448	1.00[CHB][hapmap]
rs11115449	1.00[CHB][hapmap]
rs11115450	1.00[CHB][hapmap]
rs11115451	1.00[CHB][hapmap]
rs11609468	1.00[CHB][hapmap]
rs11835207	1.00[CHB][hapmap]
rs12146872	1.00[CHB][hapmap]
rs12307933	1.00[CHB][hapmap]
rs12311396	1.00[CHB][hapmap]
rs12317459	1.00[CHB][hapmap]
rs12370453	1.00[CHB][hapmap]
rs12370719	1.00[CHB][hapmap]
rs17010057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010061	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858059	1.00[CHB][hapmap]
rs6539689	1.00[CHB][hapmap]
rs7133916	1.00[CHB][hapmap]
rs7295371	1.00[CHB][hapmap]
rs7296213	1.00[CHB][hapmap]
rs7299341	1.00[CHB][hapmap]
rs7303906	1.00[CHB][hapmap]
rs7312288	1.00[CHB][hapmap]
rs7315215	1.00[CHB][hapmap]
rs7315531	1.00[CHB][hapmap]
rs7315880	1.00[CHB][hapmap]
rs74106146	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74106147	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74106148	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7979743	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv427917	chr12:82917031-83279712	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv2755991	chr12:83105631-83248605	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv2754173	chr12:83125000-83245838	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv2756046	chr12:83166956-83245838	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
12	esv2755875	chr12:83166956-83248605	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv430520	chr12:83166956-83271602	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	esv2752707	chr12:83168113-83245838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	esv2753376	chr12:83168113-83245838	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
16	esv2754178	chr12:83168113-83245838	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
17	nsv437765	chr12:83230454-83271933	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
18	esv2421910	chr12:83240212-83243773	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
19	esv2760276	chr12:83241899-83243773	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
20	nsv442650	chr12:83241899-83243773	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83196400-83250800	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:83206600-83250000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:83206600-83255200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83212400-83257000	Weak transcription	Gastric	stomach
5	chr12:83214200-83250800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83229600-83252000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:83232800-83243400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:83234000-83249200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:83236000-83249000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:83236000-83249200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:83236000-83250800	Weak transcription	Fetal Lung	lung
12	chr12:83236000-83264000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:83236200-83253200	Weak transcription	Fetal Brain Male	brain
14	chr12:83236800-83245200	Weak transcription	Brain Substantia Nigra	brain
15	chr12:83238200-83246400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:83240000-83250800	Weak transcription	Fetal Stomach	stomach
17	chr12:83240800-83245200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:83242000-83244400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr12:83242000-83244400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr12:83242200-83244400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:83242200-83244400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:83242200-83289800	Weak transcription	Stomach Mucosa	stomach
23	chr12:83242400-83243200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr12:83242400-83243600	Enhancers	Brain Anterior Caudate	brain
25	chr12:83242400-83244400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:83242400-83244400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:83242400-83244400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:83242400-83244400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:83242400-83244400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr12:83242600-83243000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:83242600-83243000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:83242600-83243200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:83242600-83243200	Enhancers	Brain Angular Gyrus	brain
34	chr12:83242600-83243200	Enhancers	Brain Hippocampus Middle	brain
35	chr12:83242600-83243400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr12:83242600-83244000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:83242600-83244200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:83242600-83244400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr12:83242800-83243200	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:83242800-83244400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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