Variant report

Variant	rs12276120
Chromosome Location	chr11:36431950-36431951
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36429857..36432572-chr11:36436578..36438968,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10836550	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836551	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836552	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10836553	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033591	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11033592	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033596	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11033597	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274403	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12292430	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12293884	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12801831	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895838	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1895839	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs330263	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs330264	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4756310	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6484842	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6484844	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484845	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484846	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6484847	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484848	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484849	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6484850	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7119241	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7120381	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7122435	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734902	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734903	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734904	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv2761662	chr11:36429857-36434542	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36400800-36443600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:36403000-36438200	Weak transcription	Ovary	ovary
4	chr11:36407200-36441800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:36408400-36433000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:36413000-36471000	Weak transcription	Aorta	Aorta
7	chr11:36413200-36441600	Weak transcription	HSMMtube	muscle
8	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr11:36418200-36436800	Weak transcription	Pancreas	Pancrea
10	chr11:36420200-36434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:36420200-36434800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:36420400-36453200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:36420600-36435200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:36421400-36432400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:36421400-36435000	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:36421800-36432600	Weak transcription	Brain Anterior Caudate	brain
18	chr11:36423000-36432000	Weak transcription	Right Ventricle	heart
19	chr11:36423400-36441800	Weak transcription	HMEC	breast
20	chr11:36425800-36432400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:36425800-36439000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr11:36425800-36441400	Weak transcription	Fetal Kidney	kidney
23	chr11:36426200-36435200	Strong transcription	Fetal Intestine Small	intestine
24	chr11:36426400-36434400	Weak transcription	HSMM	muscle
25	chr11:36426400-36435200	Strong transcription	Fetal Intestine Large	intestine
26	chr11:36427400-36434200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:36427800-36434200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:36428000-36435000	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:36428200-36432000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:36428200-36432800	Enhancers	Primary B cells from peripheral blood	blood
31	chr11:36428200-36435000	Enhancers	Primary hematopoietic stem cells	blood
32	chr11:36428600-36432600	Enhancers	Primary B cells from cord blood	blood
33	chr11:36428800-36435000	Enhancers	Fetal Thymus	thymus
34	chr11:36429200-36434800	Weak transcription	Stomach Mucosa	stomach
35	chr11:36429600-36433600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:36429600-36436600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:36429800-36432600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:36429800-36433400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:36429800-36433600	Enhancers	Placenta	Placenta
40	chr11:36429800-36434600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:36430000-36432600	Enhancers	Fetal Muscle Leg	muscle
42	chr11:36430000-36433000	Enhancers	Spleen	Spleen
43	chr11:36430000-36433600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:36430000-36433600	Enhancers	Adipose Nuclei	Adipose
45	chr11:36430000-36433600	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr11:36430000-36433800	Enhancers	HUVEC	blood vessel
47	chr11:36430000-36434000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:36430000-36434400	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr11:36430000-36434800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr11:36430200-36432000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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