Variant report

Variant	rs12105747
Chromosome Location	chr2:33589661-33589662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11895736	1.00[ASN][1000 genomes]
rs12105119	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105856	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105947	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17012887	0.83[EUR][1000 genomes]
rs17644939	1.00[ASN][1000 genomes]
rs1869451	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769553	1.00[ASN][1000 genomes]
rs55766721	0.83[EUR][1000 genomes]
rs55870451	1.00[ASN][1000 genomes]
rs56014485	0.88[EUR][1000 genomes]
rs56412670	1.00[ASN][1000 genomes]
rs6719824	0.80[EUR][1000 genomes]
rs72799764	1.00[ASN][1000 genomes]
rs72802025	0.83[EUR][1000 genomes]
rs72802029	0.83[EUR][1000 genomes]
rs72802036	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72802037	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005435	chr2:33136117-33747159	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv535624	chr2:33136117-33747159	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1012967	chr2:33533340-33638312	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv535627	chr2:33533340-33638312	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33529800-33609400	Weak transcription	Right Ventricle	heart
2	chr2:33558400-33592200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:33564200-33591600	Weak transcription	Psoas Muscle	Psoas
4	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr2:33565800-33590400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:33571000-33590600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:33571600-33591600	Weak transcription	Brain Substantia Nigra	brain
8	chr2:33578800-33612200	Weak transcription	Fetal Kidney	kidney
9	chr2:33581400-33590400	Weak transcription	Ovary	ovary
10	chr2:33581400-33590400	Weak transcription	Pancreas	Pancrea
11	chr2:33581400-33591000	Weak transcription	Fetal Muscle Leg	muscle
12	chr2:33581400-33591600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:33581400-33594400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:33581400-33602200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:33581600-33591600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:33581600-33592000	Weak transcription	Placenta	Placenta
17	chr2:33581600-33611400	Weak transcription	Fetal Stomach	stomach
18	chr2:33582600-33590400	Weak transcription	Aorta	Aorta
19	chr2:33582600-33590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:33582800-33601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:33584200-33593400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:33585800-33591200	Strong transcription	NH-A	brain
23	chr2:33586000-33591200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:33586200-33603600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:33588000-33591800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:33588200-33590400	Weak transcription	Fetal Heart	heart
27	chr2:33588400-33624400	Weak transcription	Gastric	stomach
28	chr2:33588600-33590800	Strong transcription	Liver	Liver
29	chr2:33588800-33591200	Weak transcription	HUVEC	blood vessel
30	chr2:33588800-33596000	Weak transcription	Fetal Intestine Small	intestine
31	chr2:33589000-33590400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:33589000-33590800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:33589000-33591000	Genic enhancers	Stomach Smooth Muscle	stomach
34	chr2:33589200-33589800	Strong transcription	Left Ventricle	heart
35	chr2:33589200-33590200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:33589200-33591600	Weak transcription	HMEC	breast
37	chr2:33589200-33591800	Strong transcription	Fetal Lung	lung
38	chr2:33589200-33598000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:33589200-33623000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:33589400-33590200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:33589400-33590600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:33589400-33591600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:33589400-33591600	Strong transcription	Osteobl	bone
44	chr2:33589400-33591800	Strong transcription	NHLF	lung
45	chr2:33589400-33594800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:33589600-33590000	Enhancers	K562	blood
47	chr2:33589600-33590600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:33589600-33590800	Strong transcription	Esophagus	oesophagus
49	chr2:33589600-33591200	Weak transcription	HSMM	muscle
50	chr2:33589600-33591200	Weak transcription	NHDF-Ad	bronchial

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