Variant report

Variant	rs12076354
Chromosome Location	chr1:185144748-185144749
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10911689	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10911691	1.00[AMR][1000 genomes]
rs12064379	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072067	1.00[AMR][1000 genomes]
rs12074509	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12088208	1.00[AMR][1000 genomes]
rs16823735	1.00[AMR][1000 genomes]
rs56094240	1.00[AMR][1000 genomes]
rs58943906	1.00[AMR][1000 genomes]
rs59295359	1.00[AMR][1000 genomes]
rs60373073	1.00[AMR][1000 genomes]
rs74132215	1.00[AMR][1000 genomes]
rs74132217	1.00[AMR][1000 genomes]
rs74132289	1.00[AMR][1000 genomes]
rs74132300	1.00[AMR][1000 genomes]
rs74134440	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185147000	Weak transcription	Spleen	Spleen
2	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185127400-185152200	Weak transcription	Aorta	Aorta
4	chr1:185127400-185153000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:185127400-185157400	Weak transcription	Small Intestine	intestine
6	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
7	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:185127600-185144800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:185127600-185145200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:185127600-185145400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:185127600-185147400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
14	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
15	chr1:185127800-185147000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr1:185128200-185147200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:185128200-185153800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:185128200-185161200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:185128400-185145400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:185128400-185155200	Weak transcription	NHDF-Ad	bronchial
22	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:185128400-185201800	Weak transcription	Gastric	stomach
24	chr1:185128600-185168200	Weak transcription	Fetal Heart	heart
25	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
26	chr1:185131600-185173000	Weak transcription	Brain Substantia Nigra	brain
27	chr1:185132000-185155800	Weak transcription	HSMMtube	muscle
28	chr1:185134000-185170600	Weak transcription	Lung	lung
29	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:185134800-185159800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:185135000-185162800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:185135800-185147200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:185136600-185167200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:185136800-185171200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr1:185137200-185147800	Weak transcription	Primary T cells from cord blood	blood
36	chr1:185137200-185166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:185137200-185177200	Weak transcription	Primary B cells from cord blood	blood
38	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:185137400-185147200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:185137400-185152200	Weak transcription	Ovary	ovary
41	chr1:185137400-185154600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:185137400-185160000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr1:185137400-185160200	Weak transcription	Brain Germinal Matrix	brain
44	chr1:185137400-185168000	Weak transcription	Fetal Intestine Large	intestine
45	chr1:185137400-185177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:185138000-185153000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr1:185138000-185157400	Weak transcription	HUVEC	blood vessel
50	chr1:185138000-185182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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