Variant report

Variant	rs11941829
Chromosome Location	chr4:48130185-48130186
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	chr4:48129577..48130360-chr4:48317760..48318680,2	K562	blood:
2	chr4:48129508..48130326-chr4:48548279..48548799,3	K562	blood:
3	chr4:48129433..48130199-chr4:48276992..48278818,4	MCF-7	breast:
4	chr4:48129477..48130456-chr4:48142756..48143626,3	K562	blood:
5	chr4:48129602..48130429-chr4:48277151..48277985,3	MCF-7	breast:
6	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:
7	chr4:48129523..48130363-chr4:48143099..48143691,2	MCF-7	breast:
8	chr4:48129338..48130462-chr4:48292123..48292901,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1008277	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805164	0.89[EUR][1000 genomes]
rs10805165	0.89[EUR][1000 genomes]
rs10938522	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11730441	0.93[EUR][1000 genomes]
rs11733531	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945978	0.89[EUR][1000 genomes]
rs12502268	0.88[EUR][1000 genomes]
rs12502528	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12512837	0.89[EUR][1000 genomes]
rs12649067	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13146998	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1466990	0.89[EUR][1000 genomes]
rs1466991	0.89[EUR][1000 genomes]
rs1466992	0.89[EUR][1000 genomes]
rs1466993	0.89[EUR][1000 genomes]
rs1466994	0.89[EUR][1000 genomes]
rs1466995	0.89[EUR][1000 genomes]
rs1466996	0.89[EUR][1000 genomes]
rs1961974	0.89[EUR][1000 genomes]
rs1961975	0.87[EUR][1000 genomes]
rs2071027	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2089509	0.89[EUR][1000 genomes]
rs2089511	0.88[EUR][1000 genomes]
rs2256425	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271173	0.89[EUR][1000 genomes]
rs2271174	0.89[EUR][1000 genomes]
rs34990592	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792620	0.89[EUR][1000 genomes]
rs3792621	0.94[EUR][1000 genomes]
rs3792622	0.94[EUR][1000 genomes]
rs3805179	0.93[EUR][1000 genomes]
rs3913948	0.93[EUR][1000 genomes]
rs4323077	0.89[EUR][1000 genomes]
rs4392481	0.89[EUR][1000 genomes]
rs4392482	0.88[EUR][1000 genomes]
rs4504220	0.88[EUR][1000 genomes]
rs4695339	0.89[EUR][1000 genomes]
rs4695340	0.89[EUR][1000 genomes]
rs4695342	0.89[EUR][1000 genomes]
rs4695343	0.89[EUR][1000 genomes]
rs4695344	0.89[EUR][1000 genomes]
rs4695346	0.89[EUR][1000 genomes]
rs4695347	0.89[EUR][1000 genomes]
rs4695348	0.89[EUR][1000 genomes]
rs4695349	0.89[EUR][1000 genomes]
rs4695350	0.89[EUR][1000 genomes]
rs61326763	0.86[EUR][1000 genomes]
rs62309327	0.89[EUR][1000 genomes]
rs6844543	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6845941	0.93[EUR][1000 genomes]
rs6851861	0.88[EUR][1000 genomes]
rs6858716	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654108	0.89[EUR][1000 genomes]
rs7668350	0.88[EUR][1000 genomes]
rs7669393	0.89[EUR][1000 genomes]
rs7670351	0.89[EUR][1000 genomes]
rs7671720	0.87[EUR][1000 genomes]
rs7680519	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695902	0.89[EUR][1000 genomes]
rs7696119	0.89[EUR][1000 genomes]
rs7696271	0.89[EUR][1000 genomes]
rs885443	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955691	0.91[AMR][1000 genomes];0.97[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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48126600-48133400	Enhancers	K562	blood
3	chr4:48128800-48130400	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:48128800-48130400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:48128800-48132000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:48129000-48130400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:48129000-48130400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:48129200-48130200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr4:48129200-48130200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:48129200-48130400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr4:48129200-48130400	Enhancers	Fetal Intestine Large	intestine
13	chr4:48129200-48130400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:48129200-48130400	Enhancers	Small Intestine	intestine
15	chr4:48129200-48130600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:48129200-48130600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:48129200-48130800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:48129200-48131800	Enhancers	NHLF	lung
19	chr4:48129200-48132000	Enhancers	GM12878-XiMat	blood
20	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
21	chr4:48129400-48130200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr4:48129400-48130400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr4:48129400-48130400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr4:48129400-48130400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr4:48129400-48130400	Enhancers	Fetal Intestine Small	intestine
26	chr4:48129400-48130400	Enhancers	Right Atrium	heart
27	chr4:48129400-48130400	Enhancers	Stomach Mucosa	stomach
28	chr4:48129400-48130400	Flanking Active TSS	HSMMtube	muscle
29	chr4:48129400-48130600	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:48129400-48130600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr4:48129400-48130600	Enhancers	Liver	Liver
32	chr4:48129400-48131600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr4:48129400-48132200	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
35	chr4:48129600-48130200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:48129600-48130200	Enhancers	Primary B cells from cord blood	blood
37	chr4:48129600-48130200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:48129600-48130200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr4:48129600-48130200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:48129600-48130200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:48129600-48130200	Enhancers	Esophagus	oesophagus
42	chr4:48129600-48130400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr4:48129600-48130400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr4:48129600-48130400	Enhancers	Colonic Mucosa	Colon
45	chr4:48129600-48130400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr4:48129600-48130400	Active TSS	Rectal Smooth Muscle	rectum
47	chr4:48129600-48130400	Enhancers	Thymus	Thymus
48	chr4:48129600-48130400	Flanking Active TSS	A549	lung
49	chr4:48129600-48130400	Flanking Active TSS	HUVEC	blood vessel
50	chr4:48129600-48130400	Flanking Active TSS	NH-A	brain

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