Variant report

Variant	rs11207329
Chromosome Location	chr1:59375154-59375155
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59370025..59373918-chr1:59374367..59377851,5	K562	blood:
2	chr1:59248520..59251420-chr1:59373348..59375708,2	MCF-7	breast:
3	chr1:59366576..59370002-chr1:59372804..59375528,3	K562	blood:
4	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
5	chr1:59290642..59292329-chr1:59373188..59375440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction
ENSG00000234807	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11207332	0.85[CEU][hapmap];0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2953373	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6664131	0.86[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs74078024	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv546316	chr1:59368947-59457815	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59370000-59377800	Weak transcription	Aorta	Aorta
3	chr1:59370200-59375200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:59370200-59377200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:59370200-59377600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:59370600-59375200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr1:59370600-59375400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr1:59370600-59375400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:59370600-59377400	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:59370600-59377400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:59372000-59375400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:59372200-59377400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:59373200-59376400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:59373200-59376400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:59373400-59375200	Enhancers	Hela-S3	cervix
16	chr1:59373400-59377400	Weak transcription	K562	blood
17	chr1:59373400-59378000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:59373600-59376200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:59373800-59376200	Enhancers	HUVEC	blood vessel
20	chr1:59374000-59376000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr1:59374200-59375600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:59374200-59375600	Enhancers	HSMM	muscle
23	chr1:59374200-59375800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:59374200-59375800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:59374200-59375800	Enhancers	NH-A	brain
26	chr1:59374200-59376000	Enhancers	NHEK	skin
27	chr1:59374200-59376200	Enhancers	HMEC	breast
28	chr1:59374200-59376200	Enhancers	Osteobl	bone
29	chr1:59374200-59376400	Enhancers	NHDF-Ad	bronchial
30	chr1:59374200-59379800	Enhancers	Fetal Intestine Large	intestine
31	chr1:59374400-59375600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:59374400-59375600	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr1:59374400-59375600	Enhancers	A549	lung
34	chr1:59374400-59375800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:59374400-59379800	Enhancers	Fetal Intestine Small	intestine
36	chr1:59374600-59375400	Weak transcription	Small Intestine	intestine
37	chr1:59374800-59375200	Weak transcription	NHLF	lung
38	chr1:59374800-59375800	Enhancers	Duodenum Mucosa	Duodenum
39	chr1:59374800-59377800	Enhancers	Stomach Mucosa	stomach
40	chr1:59375000-59376000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr1:59375000-59377400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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