Variant report

Variant	rs12759784
Chromosome Location	chr1:161151549-161151550
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:161149688..161152140-chr1:161170451..161172532,2	MCF-7	breast:
2	chr1:161146815..161149235-chr1:161150923..161155171,4	MCF-7	breast:
3	chr1:161140948..161142466-chr1:161150458..161152034,2	K562	blood:
4	chr1:161149973..161152329-chr1:161158385..161160979,2	MCF-7	breast:
5	chr1:161150561..161152446-chr1:161277325..161279650,2	K562	blood:
6	chr1:161150841..161153382-chr1:161171412..161174095,2	K562	blood:

Variant related genes	Relation type
ENSG00000158864	Chromatin interaction
ENSG00000158850	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12735723	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12738103	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2307426	1.00[CEU][hapmap]
rs35587044	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41270007	0.90[EUR][1000 genomes]
rs41270023	1.00[EUR][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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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 miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161147800-161151800	Weak transcription	Esophagus	oesophagus
2	chr1:161147800-161151800	Weak transcription	HSMM	muscle
3	chr1:161147800-161151800	Weak transcription	NHDF-Ad	bronchial
4	chr1:161147800-161152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:161147800-161152000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:161147800-161152000	Weak transcription	Fetal Thymus	thymus
7	chr1:161147800-161152000	Weak transcription	A549	lung
8	chr1:161147800-161152000	Weak transcription	HSMMtube	muscle
9	chr1:161147800-161152000	Weak transcription	Osteobl	bone
10	chr1:161147800-161152200	Weak transcription	NHLF	lung
11	chr1:161147800-161153000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:161147800-161154200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:161147800-161155000	Weak transcription	Left Ventricle	heart
14	chr1:161147800-161155000	Weak transcription	Thymus	Thymus
15	chr1:161147800-161155600	Weak transcription	Lung	lung
16	chr1:161147800-161155600	Weak transcription	Right Atrium	heart
17	chr1:161147800-161155800	Weak transcription	Colonic Mucosa	Colon
18	chr1:161147800-161156800	Weak transcription	Small Intestine	intestine
19	chr1:161147800-161160600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr1:161147800-161167600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:161148000-161151800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:161148000-161151800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:161148000-161151800	Weak transcription	Spleen	Spleen
24	chr1:161148000-161152000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr1:161148000-161152000	Weak transcription	Adipose Nuclei	Adipose
26	chr1:161148000-161152000	Weak transcription	NH-A	brain
27	chr1:161148000-161152200	Weak transcription	HUVEC	blood vessel
28	chr1:161148000-161155400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:161148200-161151800	Weak transcription	Hela-S3	cervix
30	chr1:161148200-161151800	Weak transcription	HMEC	breast
31	chr1:161148200-161153600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:161148200-161153800	Weak transcription	Brain Anterior Caudate	brain
33	chr1:161148200-161153800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:161148200-161154000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:161148200-161154000	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:161148200-161154200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr1:161148200-161154400	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:161148200-161155000	Weak transcription	Fetal Stomach	stomach
39	chr1:161148200-161155200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:161148200-161155400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:161148200-161155800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:161148200-161160400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:161148200-161160400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:161148200-161161000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:161148200-161162400	Weak transcription	Liver	Liver
46	chr1:161148200-161162600	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:161148200-161167400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:161148400-161151800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:161148400-161153800	Weak transcription	Brain Substantia Nigra	brain
50	chr1:161148400-161155000	Weak transcription	Dnd41	blood

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