Variant report

Variant	rs1964951
Chromosome Location	chr1:155931266-155931267
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155920875..155922518-chr1:155929901..155931540,2	MCF-7	breast:
2	chr1:155929776..155931816-chr1:155936198..155938525,2	MCF-7	breast:
3	chr1:155902649..155906864-chr1:155928278..155934368,7	MCF-7	breast:
4	chr1:155903455..155906976-chr1:155930050..155931967,4	K562	blood:
5	chr1:155911063..155912721-chr1:155931066..155933374,2	MCF-7	breast:
6	chr1:155910241..155913815-chr1:155925549..155931886,5	K562	blood:
7	chr1:155929665..155932692-chr1:155935407..155940311,5	MCF-7	breast:
8	chr1:155903455..155906976-chr1:155930050..155931967,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000132680	Chromatin interaction
ENSG00000173080	Chromatin interaction
ENSG00000116584	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1010033	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1018730	0.96[EUR][1000 genomes]
rs1055184	0.94[EUR][1000 genomes]
rs10908485	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11264421	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12039053	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12138833	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12747344	0.97[EUR][1000 genomes]
rs1749407	0.88[EUR][1000 genomes]
rs1749408	0.83[EUR][1000 genomes]
rs1749409	0.94[EUR][1000 genomes]
rs1765275	0.96[EUR][1000 genomes]
rs2275079	0.94[EUR][1000 genomes]
rs2275081	0.94[EUR][1000 genomes]
rs2364402	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2364404	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28379575	0.94[EUR][1000 genomes]
rs2886069	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34802187	0.97[EUR][1000 genomes]
rs35138477	0.86[EUR][1000 genomes]
rs35374730	0.94[EUR][1000 genomes]
rs35588936	0.89[EUR][1000 genomes]
rs35730001	1.00[EUR][1000 genomes]
rs3768280	0.94[EUR][1000 genomes]
rs4412586	0.94[EUR][1000 genomes]
rs4661160	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4661162	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4661170	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4661172	0.96[EUR][1000 genomes]
rs493446	0.94[EUR][1000 genomes]
rs506688	0.94[EUR][1000 genomes]
rs527113	0.94[EUR][1000 genomes]
rs536870	0.94[EUR][1000 genomes]
rs572609	0.94[EUR][1000 genomes]
rs605025	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6660802	0.94[EUR][1000 genomes]
rs6667096	0.94[EUR][1000 genomes]
rs708614	0.94[EUR][1000 genomes]
rs71628697	0.96[EUR][1000 genomes]
rs71628699	0.88[EUR][1000 genomes]
rs822502	0.87[EUR][1000 genomes]
rs822503	0.93[EUR][1000 genomes]
rs822653	0.94[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	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155905000-155945600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:155911200-155940000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:155914800-155931600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:155915200-155936800	Strong transcription	Fetal Brain Female	brain
5	chr1:155915200-155937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:155915800-155931600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:155915800-155935200	Strong transcription	Brain Germinal Matrix	brain
8	chr1:155915800-155936600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:155916000-155931400	Strong transcription	HUVEC	blood vessel
10	chr1:155916000-155937000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:155916200-155931600	Weak transcription	Right Atrium	heart
12	chr1:155916200-155932400	Strong transcription	Colon Smooth Muscle	Colon
13	chr1:155916200-155937000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr1:155916400-155931800	Strong transcription	Lung	lung
15	chr1:155916400-155936200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:155916400-155936400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr1:155916400-155936600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:155916400-155937200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:155916400-155937400	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:155916600-155932400	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:155916600-155935800	Strong transcription	Fetal Intestine Small	intestine
22	chr1:155916600-155937000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:155916600-155937200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:155916800-155931600	Strong transcription	Colonic Mucosa	Colon
25	chr1:155916800-155932400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr1:155916800-155937000	Strong transcription	Thymus	Thymus
27	chr1:155917000-155931800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:155917000-155937200	Strong transcription	Fetal Intestine Large	intestine
29	chr1:155917000-155939400	Strong transcription	Dnd41	blood
30	chr1:155917200-155936800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:155917400-155931600	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:155917400-155931800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:155917600-155932000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:155917600-155936400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr1:155917600-155937000	Strong transcription	Fetal Thymus	thymus
36	chr1:155917800-155932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:155917800-155933200	Strong transcription	Rectal Smooth Muscle	rectum
38	chr1:155917800-155936400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:155918000-155931400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr1:155918000-155936000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr1:155918000-155936000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:155918400-155935000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:155919600-155936400	Strong transcription	Primary T cells from cord blood	blood
44	chr1:155920400-155931800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:155922200-155931800	Weak transcription	Psoas Muscle	Psoas
46	chr1:155924000-155937200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:155926200-155931600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:155926400-155937200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:155926600-155932600	Strong transcription	Small Intestine	intestine
50	chr1:155926800-155932600	Strong transcription	K562	blood

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