Variant report

Variant	rs17118404
Chromosome Location	chr1:59388115-59388116
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59247716..59250635-chr1:59387494..59390458,3	K562	blood:
2	chr1:59247110..59249752-chr1:59387312..59390458,3	K562	blood:
3	chr1:59381429..59382962-chr1:59387414..59389644,2	K562	blood:
4	chr1:59243135..59245707-chr1:59386967..59388565,2	K562	blood:
5	chr1:59377762..59379375-chr1:59386818..59388727,2	K562	blood:

Variant related genes	Relation type
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10493253	0.94[YRI][hapmap]
rs11207323	0.81[YRI][hapmap]
rs11207326	0.88[YRI][hapmap]
rs11207332	0.93[YRI][hapmap]
rs12117564	0.87[YRI][hapmap]
rs17118446	0.87[YRI][hapmap];0.82[AFR][1000 genomes]
rs6697107	0.86[YRI][hapmap]

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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59369800-59388200	Weak transcription	Gastric	stomach
2	chr1:59385000-59388800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:59385200-59390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:59385200-59397800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:59386600-59388200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:59386600-59388400	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr1:59386600-59399800	Enhancers	Fetal Intestine Small	intestine
8	chr1:59386800-59389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:59386800-59389200	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:59386800-59390800	Enhancers	Fetal Intestine Large	intestine
11	chr1:59387000-59389000	Enhancers	Stomach Mucosa	stomach
12	chr1:59387000-59389200	Enhancers	NHEK	skin
13	chr1:59387200-59389200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:59387200-59389200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:59387400-59388200	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:59387400-59389200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr1:59387400-59389200	Enhancers	Fetal Lung	lung
18	chr1:59387400-59389200	Enhancers	HMEC	breast
19	chr1:59387400-59389600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:59387600-59388400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:59387600-59388600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:59387600-59388600	Enhancers	Placenta	Placenta
23	chr1:59387600-59388800	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:59387600-59388800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:59387600-59388800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:59387600-59388800	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:59387600-59389000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:59387600-59389000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:59387600-59389000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:59387600-59389000	Enhancers	Colon Smooth Muscle	Colon
31	chr1:59387600-59389000	Enhancers	Esophagus	oesophagus
32	chr1:59387600-59389000	Enhancers	Right Atrium	heart
33	chr1:59387600-59389200	Enhancers	Primary T cells fromperipheralblood	blood
34	chr1:59387600-59389200	Enhancers	Colonic Mucosa	Colon
35	chr1:59387600-59389200	Enhancers	Fetal Heart	heart
36	chr1:59387600-59389200	Enhancers	Fetal Muscle Leg	muscle
37	chr1:59387600-59389200	Enhancers	Fetal Stomach	stomach
38	chr1:59387600-59389200	Enhancers	Left Ventricle	heart
39	chr1:59387600-59389200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:59387600-59389200	Enhancers	Small Intestine	intestine
41	chr1:59387800-59388200	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:59387800-59388400	Enhancers	Brain Cingulate Gyrus	brain
43	chr1:59387800-59388400	Enhancers	Fetal Muscle Trunk	muscle
44	chr1:59387800-59388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:59387800-59388600	Enhancers	HSMM	muscle
46	chr1:59387800-59388800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:59387800-59388800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:59387800-59389000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:59388000-59388400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:59388000-59388400	Enhancers	Adipose Nuclei	Adipose

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