Variant report

Variant	rs72988587
Chromosome Location	chr1:114200612-114200613
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113931918..113934617-chr1:114200374..114201953,2	K562	blood:
2	chr1:114194523..114197911-chr1:114198408..114201889,3	K562	blood:
3	chr1:114196620..114199444-chr1:114200483..114202239,2	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs72986647	1.00[AMR][1000 genomes]
rs72988553	1.00[AMR][1000 genomes]
rs72988578	1.00[AMR][1000 genomes]
rs72990447	1.00[AMR][1000 genomes]
rs72990454	1.00[AMR][1000 genomes]
rs72990460	1.00[AMR][1000 genomes]
rs72998111	1.00[AMR][1000 genomes]
rs72998179	1.00[AMR][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	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
2	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
3	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
4	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
6	chr1:114173800-114201800	Weak transcription	Lung	lung
7	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
8	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
10	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
11	chr1:114182600-114206200	Weak transcription	Hela-S3	cervix
12	chr1:114182800-114201800	Weak transcription	Brain Germinal Matrix	brain
13	chr1:114182800-114201800	Weak transcription	Fetal Brain Male	brain
14	chr1:114182800-114217400	Weak transcription	NHDF-Ad	bronchial
15	chr1:114183000-114201200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:114183000-114235800	Weak transcription	Dnd41	blood
17	chr1:114183400-114215800	Weak transcription	Fetal Lung	lung
18	chr1:114183600-114216400	Weak transcription	A549	lung
19	chr1:114184600-114204800	Weak transcription	Psoas Muscle	Psoas
20	chr1:114184800-114201800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:114185200-114224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:114185400-114201200	Weak transcription	Brain Angular Gyrus	brain
23	chr1:114185400-114214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:114185400-114228000	Weak transcription	HepG2	liver
25	chr1:114185800-114223600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:114187400-114201800	Weak transcription	Primary T cells from cord blood	blood
27	chr1:114188200-114201800	Weak transcription	Small Intestine	intestine
28	chr1:114188200-114202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:114190000-114201800	Weak transcription	NH-A	brain
30	chr1:114190000-114206200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:114190000-114217600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:114190000-114220000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:114190200-114204800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:114190200-114214000	Weak transcription	Placenta	Placenta
35	chr1:114192000-114201800	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:114192400-114201800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:114194000-114223600	Weak transcription	Left Ventricle	heart
38	chr1:114194200-114215200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:114194400-114201800	Weak transcription	Fetal Intestine Small	intestine
40	chr1:114194400-114201800	Weak transcription	Fetal Stomach	stomach
41	chr1:114194800-114201000	Strong transcription	Fetal Intestine Large	intestine
42	chr1:114195600-114202600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr1:114195600-114206000	Weak transcription	HSMM	muscle
44	chr1:114195600-114214400	Weak transcription	Adipose Nuclei	Adipose
45	chr1:114195800-114205600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:114196000-114202400	Weak transcription	NHEK	skin
47	chr1:114196400-114202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:114196400-114204800	Weak transcription	HMEC	breast
49	chr1:114196600-114226400	Weak transcription	Gastric	stomach
50	chr1:114196800-114201800	Weak transcription	Duodenum Mucosa	Duodenum

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