Variant report

Variant	rs11829598
Chromosome Location	chr12:105547502-105547503
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105546702..105548786-chr12:105550881..105552428,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112291	1.00[ASN][1000 genomes]
rs11112292	1.00[ASN][1000 genomes]
rs11112293	1.00[ASN][1000 genomes]
rs11112294	1.00[ASN][1000 genomes]
rs11112295	1.00[ASN][1000 genomes]
rs11112315	1.00[ASN][1000 genomes]
rs11112316	1.00[ASN][1000 genomes]
rs11112318	1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112389	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112410	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11495192	1.00[ASN][1000 genomes]
rs11559871	0.85[EUR][1000 genomes]
rs12299366	0.92[EUR][1000 genomes]
rs12299391	0.92[EUR][1000 genomes]
rs12301914	0.92[EUR][1000 genomes]
rs12304384	0.92[EUR][1000 genomes]
rs12305766	0.85[EUR][1000 genomes]
rs12307372	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311156	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12312965	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12317637	0.87[EUR][1000 genomes]
rs12317804	0.92[EUR][1000 genomes]
rs12321199	0.92[EUR][1000 genomes]
rs12321518	0.89[EUR][1000 genomes]
rs12321534	0.82[EUR][1000 genomes]
rs12369202	1.00[ASN][1000 genomes]
rs12369490	1.00[ASN][1000 genomes]
rs12372369	1.00[ASN][1000 genomes]
rs12372454	1.00[ASN][1000 genomes]
rs12424191	0.89[EUR][1000 genomes]
rs12424709	0.89[EUR][1000 genomes]
rs12425803	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036595	1.00[ASN][1000 genomes]
rs17036608	1.00[ASN][1000 genomes]
rs1801070	1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	1.00[ASN][1000 genomes]
rs55916348	1.00[ASN][1000 genomes]
rs56284118	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862143	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59320697	0.89[EUR][1000 genomes]
rs59593474	0.92[EUR][1000 genomes]
rs60835294	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60999193	0.92[EUR][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7132816	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7133728	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7136453	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138574	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300130	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7302842	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7305406	0.89[EUR][1000 genomes]
rs7310860	1.00[ASN][1000 genomes]
rs7313309	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179996	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73179998	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73180001	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181822	0.89[EUR][1000 genomes]
rs73181857	0.85[EUR][1000 genomes]
rs73193619	1.00[ASN][1000 genomes]
rs73193626	1.00[ASN][1000 genomes]
rs73193630	1.00[ASN][1000 genomes]
rs73193631	1.00[ASN][1000 genomes]
rs7956643	1.00[ASN][1000 genomes]
rs7964184	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	1.00[ASN][1000 genomes]
rs7971630	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7975787	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978034	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1049296	chr12:105518764-105566079	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:105506800-105568800	Strong transcription	Dnd41	blood
11	chr12:105506800-105572400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:105507000-105573200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:105507200-105571400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr12:105507400-105565600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr12:105507600-105571400	Strong transcription	HUVEC	blood vessel
16	chr12:105507600-105572800	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:105507800-105563800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:105507800-105573200	Strong transcription	Placenta	Placenta
19	chr12:105508000-105549200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:105508000-105550400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:105508000-105565400	Strong transcription	Adipose Nuclei	Adipose
22	chr12:105508200-105572800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:105508400-105562000	Strong transcription	Primary B cells from cord blood	blood
24	chr12:105508600-105573000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:105508800-105565000	Strong transcription	Liver	Liver
26	chr12:105510000-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:105513800-105567800	Weak transcription	Pancreas	Pancrea
28	chr12:105515200-105557600	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr12:105517800-105555200	Weak transcription	Small Intestine	intestine
30	chr12:105518600-105573200	Strong transcription	HSMM	muscle
31	chr12:105519400-105558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr12:105520000-105550000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:105522600-105557600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:105522600-105586000	Weak transcription	Stomach Mucosa	stomach
35	chr12:105522800-105548200	Weak transcription	Brain Angular Gyrus	brain
36	chr12:105524600-105578200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr12:105525400-105583200	Weak transcription	Fetal Heart	heart
38	chr12:105525600-105549000	Weak transcription	Right Ventricle	heart
39	chr12:105527200-105565400	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr12:105528800-105549800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:105529800-105549200	Strong transcription	NH-A	brain
42	chr12:105529800-105571400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr12:105531200-105548800	Weak transcription	Esophagus	oesophagus
44	chr12:105531200-105557200	Weak transcription	Gastric	stomach
45	chr12:105531200-105557400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr12:105531600-105550400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:105532200-105552000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:105532400-105577800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:105533200-105565200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:105533400-105549200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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