Variant report

Variant	rs12140001
Chromosome Location	chr1:225809414-225809415
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10915849	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12043633	0.90[CHB][hapmap]
rs16844878	0.81[CHB][hapmap];0.87[YRI][hapmap]
rs16845098	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61850607	0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225760000-225820600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:225780800-225815400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:225781000-225825400	Weak transcription	Fetal Stomach	stomach
4	chr1:225793600-225813200	Weak transcription	Left Ventricle	heart
5	chr1:225793600-225813800	Weak transcription	NH-A	brain
6	chr1:225794600-225813200	Weak transcription	Lung	lung
7	chr1:225795600-225813200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:225795600-225813200	Weak transcription	Psoas Muscle	Psoas
9	chr1:225795600-225813800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:225796400-225810200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:225796400-225812600	Weak transcription	Right Atrium	heart
12	chr1:225796600-225812200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:225797200-225815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:225797400-225812600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr1:225797400-225814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:225800200-225812600	Weak transcription	Gastric	stomach
17	chr1:225801600-225809600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:225801600-225813600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:225802600-225809800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:225802600-225813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:225802600-225813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:225802800-225811600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:225804600-225809800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:225805000-225809600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:225805600-225809600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:225805800-225809600	Weak transcription	HSMM	muscle
27	chr1:225805800-225814800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:225806000-225810000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:225806000-225812400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:225806000-225813400	Weak transcription	Aorta	Aorta
31	chr1:225806000-225813800	Weak transcription	Fetal Intestine Small	intestine
32	chr1:225806200-225812400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:225806200-225817600	Weak transcription	Fetal Brain Female	brain
34	chr1:225806400-225813400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:225806400-225813800	Weak transcription	Fetal Muscle Leg	muscle
36	chr1:225806400-225814200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:225806400-225814200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:225806400-225814400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:225806400-225815200	Weak transcription	Adipose Nuclei	Adipose
40	chr1:225806600-225809600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:225806600-225812400	Weak transcription	Fetal Lung	lung
42	chr1:225806600-225812600	Weak transcription	Fetal Heart	heart
43	chr1:225806800-225812600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:225806800-225813200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:225806800-225813200	Weak transcription	Rectal Smooth Muscle	rectum
46	chr1:225806800-225813600	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr1:225806800-225813800	Weak transcription	Right Ventricle	heart
48	chr1:225806800-225814000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:225806800-225814000	Weak transcription	NHDF-Ad	bronchial
50	chr1:225806800-225814600	Weak transcription	A549	lung

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