Variant report

Variant	rs377314280
Chromosome Location	chr1:193059193-193059194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193056542..193059749-chr1:193072795..193074654,3	MCF-7	breast:
2	chr1:193058724..193061368-chr1:193089881..193091482,2	MCF-7	breast:
3	chr1:193057980..193059695-chr1:193063116..193065702,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction
ENSG00000023572	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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1002094	chr1:192968080-193084045	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv2550406	chr1:193057723-193059259	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193033200-193067600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:193044800-193061200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:193045200-193070200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:193046800-193070400	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:193047000-193062600	Weak transcription	Small Intestine	intestine
6	chr1:193047000-193066000	Weak transcription	Right Ventricle	heart
7	chr1:193047400-193071400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:193047600-193059200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:193048200-193072600	Weak transcription	Stomach Mucosa	stomach
10	chr1:193048600-193073000	Weak transcription	Fetal Brain Male	brain
11	chr1:193048800-193070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:193050000-193061600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:193050800-193072600	Weak transcription	Fetal Heart	heart
14	chr1:193051400-193066400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:193052200-193066600	Weak transcription	Gastric	stomach
16	chr1:193052200-193067200	Weak transcription	Pancreas	Pancrea
17	chr1:193052800-193066600	Weak transcription	Brain Angular Gyrus	brain
18	chr1:193052800-193068400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr1:193052800-193068600	Weak transcription	Fetal Kidney	kidney
20	chr1:193052800-193072600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:193053000-193062600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:193053000-193063000	Weak transcription	HSMMtube	muscle
23	chr1:193053000-193063200	Weak transcription	Fetal Intestine Small	intestine
24	chr1:193053000-193063200	Weak transcription	Fetal Stomach	stomach
25	chr1:193053000-193067200	Weak transcription	Lung	lung
26	chr1:193053000-193067400	Weak transcription	NHEK	skin
27	chr1:193053000-193068600	Weak transcription	Spleen	Spleen
28	chr1:193053000-193069000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:193053000-193072200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:193053000-193073200	Weak transcription	Esophagus	oesophagus
31	chr1:193053200-193063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:193053200-193063200	Weak transcription	Aorta	Aorta
33	chr1:193053200-193066400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr1:193053400-193072000	Weak transcription	Psoas Muscle	Psoas
35	chr1:193053600-193063400	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:193053600-193072600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:193053800-193061800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr1:193053800-193063200	Weak transcription	Primary T cells from cord blood	blood
39	chr1:193054000-193061800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:193054000-193061800	Weak transcription	Left Ventricle	heart
41	chr1:193054000-193063200	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:193054000-193063600	Weak transcription	Fetal Brain Female	brain
43	chr1:193054000-193065600	Weak transcription	HepG2	liver
44	chr1:193054000-193068400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:193054000-193068600	Weak transcription	Thymus	Thymus
46	chr1:193054200-193059200	Weak transcription	A549	lung
47	chr1:193054200-193062000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:193054200-193062200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr1:193054200-193063000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:193054200-193065000	Weak transcription	Brain Cingulate Gyrus	brain

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