Variant report

Variant	rs200337750
Chromosome Location	chr1:226374389-226374390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226372831..226375478-chr1:226375885..226377759,2	MCF-7	breast:
2	chr1:226374025..226374961-chr10:103124126..103125126,2	Hela-S3	cervix:
3	chr1:226374065..226375016-chr5:130506120..130506933,2	NB4	blood:
4	chr1:226186326..226187179-chr1:226374081..226375039,2	K562	blood:
5	chr1:226313378..226317234-chr1:226370614..226375969,8	MCF-7	breast:
6	chr1:226374221..226374879-chr11:62608322..62609498,3	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000143751	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000222414	Chromatin interaction
ENSG00000186687	Chromatin interaction
ENSG00000223570	Chromatin interaction
ENSG00000270598	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv873232	chr1:226242772-226375267	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv832759	chr1:226303760-226504170	Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv945331	chr1:226374378-226377514	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226372000-226375200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:226372200-226374800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:226372200-226375200	Active TSS	NHDF-Ad	bronchial
4	chr1:226372400-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:226372400-226375000	Active TSS	NHLF	lung
6	chr1:226372600-226374600	Active TSS	Fetal Muscle Trunk	muscle
7	chr1:226372600-226374800	Active TSS	HSMMtube	muscle
8	chr1:226372600-226374800	Active TSS	Osteobl	bone
9	chr1:226372600-226375000	Active TSS	HSMM	muscle
10	chr1:226372600-226375200	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:226372600-226375400	Active TSS	GM12878-XiMat	blood
12	chr1:226372800-226374800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:226372800-226374800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:226372800-226374800	Active TSS	Fetal Kidney	kidney
15	chr1:226372800-226375000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:226372800-226375000	Active TSS	Left Ventricle	heart
17	chr1:226372800-226375200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:226372800-226375200	Active TSS	Psoas Muscle	Psoas
19	chr1:226372800-226375400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:226373000-226374600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:226373000-226374600	Active TSS	Stomach Mucosa	stomach
22	chr1:226373000-226374800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:226373000-226374800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:226373000-226374800	Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:226373000-226374800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:226373000-226374800	Active TSS	Placenta	Placenta
27	chr1:226373000-226374800	Active TSS	Pancreas	Pancrea
28	chr1:226373000-226375000	Active TSS	Aorta	Aorta
29	chr1:226373000-226375000	Active TSS	Colonic Mucosa	Colon
30	chr1:226373000-226375000	Active TSS	Fetal Stomach	stomach
31	chr1:226373000-226375000	Active TSS	Ovary	ovary
32	chr1:226373000-226375000	Active TSS	Right Ventricle	heart
33	chr1:226373000-226375000	Bivalent/Poised TSS	HepG2	liver
34	chr1:226373000-226375200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr1:226373000-226375200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:226373000-226375200	Active TSS	Fetal Intestine Small	intestine
37	chr1:226373000-226375200	Active TSS	Fetal Muscle Leg	muscle
38	chr1:226373200-226374600	Active TSS	HMEC	breast
39	chr1:226373200-226374800	Active TSS	Fetal Intestine Large	intestine
40	chr1:226373200-226374800	Active TSS	Placenta Amnion	Placenta Amnion
41	chr1:226373200-226374800	Active TSS	HUVEC	blood vessel
42	chr1:226373200-226374800	Active TSS	NH-A	brain
43	chr1:226373200-226375000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:226373200-226375200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:226373200-226375200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:226373200-226375200	Active TSS	K562	blood
47	chr1:226373400-226374600	Active TSS	Lung	lung
48	chr1:226373400-226374800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:226373400-226374800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr1:226373400-226374800	Active TSS	Sigmoid Colon	Sigmoid Colon

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