Variant report

Variant	rs2017955
Chromosome Location	chr1:56998925-56998926
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56996284..56998415-chr1:56998780..57000786,2	MCF-7	breast:
2	chr1:56998583..57000958-chr1:57003015..57004640,2	K562	blood:

Variant related genes	Relation type
ENSG00000236776	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10493211	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10888977	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11206838	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576602	0.83[ASN][1000 genomes]
rs12082242	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12134109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12406517	0.83[ASN][1000 genomes]
rs1930760	0.82[EUR][1000 genomes]
rs56152906	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7551402	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs953856	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs953857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56967000-57002000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:56977800-56999200	Weak transcription	A549	lung
3	chr1:56983400-57000800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:56987000-57015000	Genic enhancers	NHDF-Ad	bronchial
5	chr1:56990000-57004000	Genic enhancers	Liver	Liver
6	chr1:56992000-57001200	Weak transcription	Spleen	Spleen
7	chr1:56992800-57011200	Weak transcription	Stomach Mucosa	stomach
8	chr1:56993000-56999800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:56993000-57004600	Weak transcription	Hela-S3	cervix
10	chr1:56993200-57001400	Enhancers	Right Atrium	heart
11	chr1:56993600-57007800	Weak transcription	Primary B cells from cord blood	blood
12	chr1:56993800-57004200	Weak transcription	NH-A	brain
13	chr1:56994000-56999000	Weak transcription	Aorta	Aorta
14	chr1:56994000-57000000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:56994000-57001200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:56994000-57004000	Weak transcription	HUVEC	blood vessel
17	chr1:56994000-57012400	Weak transcription	Fetal Brain Male	brain
18	chr1:56994000-57012800	Weak transcription	Fetal Brain Female	brain
19	chr1:56994200-56999400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:56994200-57001200	Weak transcription	Dnd41	blood
21	chr1:56994200-57004400	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr1:56994400-57002600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:56994600-56999600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:56994600-56999800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:56994800-56999000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:56995000-57003400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:56995000-57003600	Strong transcription	Osteobl	bone
28	chr1:56995200-56999800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:56995200-57000000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:56995200-57003800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:56995600-57000000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr1:56995600-57004600	Weak transcription	Colon Smooth Muscle	Colon
33	chr1:56995800-56999200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:56995800-57004000	Genic enhancers	HepG2	liver
35	chr1:56996000-57001200	Enhancers	Right Ventricle	heart
36	chr1:56996000-57002800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:56996200-57003000	Genic enhancers	H1 Cell Line	embryonic stem cell
38	chr1:56996200-57003000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:56996200-57003000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr1:56996400-56999400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:56996400-57000200	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:56996600-56999400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:56996600-57000000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:56996600-57004000	Strong transcription	HSMM	muscle
45	chr1:56996600-57005200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:56996800-57000800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:56996800-57003000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:56997000-56999200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:56997000-57001800	Genic enhancers	Adipose Nuclei	Adipose
50	chr1:56997000-57003400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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