Variant report

Variant	rs995328
Chromosome Location	chr11:36048840-36048841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1358986	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1358987	1.00[CEU][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs262425	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs262450	0.90[JPT][hapmap]
rs4547071	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57144163	0.89[ASN][1000 genomes]
rs58189852	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58230129	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60312060	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61879138	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61879139	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61879140	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61879141	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61879142	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7118616	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7128336	1.00[JPT][hapmap]
rs7927137	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7927259	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832122	chr11:35933760-36103748	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
2	nsv554002	chr11:36025118-36052212	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36027600-36051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:36031400-36052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:36037200-36049000	Weak transcription	Fetal Intestine Small	intestine
4	chr11:36037800-36051800	Weak transcription	Fetal Brain Male	brain
5	chr11:36041200-36051600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr11:36041600-36054200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:36041600-36058400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:36041800-36055000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:36042800-36051000	Weak transcription	Brain Substantia Nigra	brain
10	chr11:36043000-36049200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:36045000-36059800	Weak transcription	Fetal Kidney	kidney
12	chr11:36045200-36049200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:36045400-36049400	Weak transcription	Fetal Lung	lung
14	chr11:36045400-36051600	Weak transcription	Brain Anterior Caudate	brain
15	chr11:36045400-36051600	Weak transcription	Fetal Stomach	stomach
16	chr11:36045800-36050800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr11:36045800-36056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:36046200-36050800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr11:36046200-36051000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:36046200-36051200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:36046200-36051600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:36046200-36051800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:36046200-36052000	Weak transcription	Osteobl	bone
24	chr11:36046200-36055200	Weak transcription	HMEC	breast
25	chr11:36046200-36055800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:36046200-36056000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:36046200-36056000	Weak transcription	NHEK	skin
28	chr11:36046400-36049600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:36046400-36051000	Weak transcription	NHDF-Ad	bronchial
30	chr11:36046400-36051200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:36046400-36051400	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:36046400-36051600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:36046400-36052000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:36046400-36054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:36046400-36056800	Weak transcription	Esophagus	oesophagus
36	chr11:36046400-36058600	Weak transcription	Spleen	Spleen
37	chr11:36046600-36049400	Weak transcription	Left Ventricle	heart
38	chr11:36046600-36051600	Weak transcription	Ovary	ovary
39	chr11:36046600-36054200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:36046600-36059000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:36046800-36051600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:36046800-36051600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:36046800-36051600	Weak transcription	HSMM	muscle
44	chr11:36046800-36054800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:36048000-36050000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:36048200-36049200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:36048200-36049400	Enhancers	Placenta	Placenta
48	chr11:36048200-36049400	Weak transcription	HSMMtube	muscle
49	chr11:36048200-36054600	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:36048400-36049200	Weak transcription	Right Atrium	heart

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