Variant report

Variant	rs1168131
Chromosome Location	chr1:63134092-63134093
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	chr1:63126981..63129509-chr1:63133122..63135258,2	K562	blood:
2	chr1:63133186..63134918-chr1:63152800..63155095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116641	Chromatin interaction
ENSG00000235545	Chromatin interaction

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

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

rs_ID	r²[population]
rs1168090	0.80[AFR][1000 genomes]
rs1168092	0.94[AFR][1000 genomes]
rs1168095	1.00[AFR][1000 genomes]
rs1168101	0.85[AFR][1000 genomes]
rs1168105	0.85[AFR][1000 genomes]
rs1168123	1.00[AFR][1000 genomes]
rs1183265	0.85[AFR][1000 genomes]
rs1690764	0.84[AFR][1000 genomes]
rs17123733	0.86[AFR][1000 genomes]
rs2769486	0.90[AFR][1000 genomes]
rs4329539	0.84[AFR][1000 genomes]
rs58555528	1.00[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	nsv1014376	chr1:62976472-63181359	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:63088000-63134600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:63099600-63137000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:63107400-63151200	Weak transcription	Pancreas	Pancrea
4	chr1:63107600-63147800	Weak transcription	NHEK	skin
5	chr1:63108800-63151200	Weak transcription	Fetal Stomach	stomach
6	chr1:63109000-63147800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:63109200-63143000	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:63109200-63150200	Weak transcription	Fetal Brain Male	brain
9	chr1:63110200-63140800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:63111400-63150200	Weak transcription	Fetal Lung	lung
11	chr1:63112400-63137600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:63112400-63140800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:63112400-63142400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:63112400-63142800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:63112400-63152400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:63113200-63134600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:63113400-63142400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:63113400-63142400	Weak transcription	Osteobl	bone
19	chr1:63113600-63151000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr1:63113600-63152800	Weak transcription	Primary B cells from cord blood	blood
21	chr1:63114000-63143000	Weak transcription	Aorta	Aorta
22	chr1:63118000-63150800	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:63118200-63147600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:63119000-63148000	Weak transcription	Fetal Brain Female	brain
25	chr1:63119800-63134600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:63119800-63134800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:63119800-63138800	Weak transcription	Fetal Kidney	kidney
28	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:63119800-63142400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:63119800-63150200	Weak transcription	Adipose Nuclei	Adipose
31	chr1:63120400-63136600	Weak transcription	Dnd41	blood
32	chr1:63123000-63134800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:63123000-63140800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:63123000-63141200	Weak transcription	Lung	lung
35	chr1:63123000-63147800	Weak transcription	Gastric	stomach
36	chr1:63126800-63147800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:63127000-63138800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:63127000-63142200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:63127400-63142400	Weak transcription	HSMM	muscle
40	chr1:63127800-63142400	Weak transcription	NH-A	brain
41	chr1:63128600-63137000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:63128600-63142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:63128800-63139000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:63128800-63147400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:63128800-63150800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:63129000-63134400	Weak transcription	NHDF-Ad	bronchial
47	chr1:63131200-63149200	Weak transcription	Fetal Intestine Small	intestine
48	chr1:63132600-63134800	Weak transcription	Stomach Mucosa	stomach
49	chr1:63132800-63134800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:63132800-63137000	Weak transcription	HepG2	liver

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