Variant report

Variant	rs373595687
Chromosome Location	chr1:210424563-210424564
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210313972..210316201-chr1:210423103..210425366,2	MCF-7	breast:
2	chr1:210422501..210425086-chr1:210426035..210428636,3	MCF-7	breast:
3	chr1:210424216..210425917-chr1:210546411..210548100,2	K562	blood:
4	chr1:210413923..210415474-chr1:210422643..210424699,2	MCF-7	breast:
5	chr1:210424072..210425856-chr1:210442744..210445693,2	MCF-7	breast:
6	chr1:210423750..210428226-chr1:210545532..210548687,6	MCF-7	breast:
7	chr1:210417487..210419206-chr1:210423476..210426436,2	MCF-7	breast:
8	chr1:210403920..210408133-chr1:210424303..210428339,6	MCF-7	breast:
9	chr1:210404569..210409056-chr1:210423278..210427525,11	MCF-7	breast:
10	chr1:210424408..210427087-chr1:210436244..210439135,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200972	Chromatin interaction
ENSG00000082497	Chromatin interaction
ENSG00000203706	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	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	esv3373545	chr1:210423754-210426302	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210423200-210424800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:210423600-210424600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr1:210423600-210424600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:210423600-210424800	Enhancers	Small Intestine	intestine
5	chr1:210423600-210428000	Enhancers	Fetal Heart	heart
6	chr1:210423800-210424600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:210423800-210424600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:210423800-210424600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:210423800-210424600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:210423800-210424600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:210423800-210424600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:210423800-210424600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr1:210423800-210424600	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:210423800-210424800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:210423800-210425000	Bivalent Enhancer	NHLF	lung
16	chr1:210423800-210426600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:210424000-210424600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
18	chr1:210424000-210424600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:210424000-210424600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:210424000-210424600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr1:210424000-210424800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:210424000-210424800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:210424000-210424800	Enhancers	Esophagus	oesophagus
24	chr1:210424000-210424800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr1:210424000-210425000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:210424000-210425000	Active TSS	Brain Hippocampus Middle	brain
27	chr1:210424000-210425000	Enhancers	Lung	lung
28	chr1:210424000-210425200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:210424000-210425200	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:210424000-210425400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr1:210424000-210425400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:210424000-210425600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr1:210424000-210425600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
34	chr1:210424000-210426400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr1:210424000-210426400	Enhancers	Fetal Brain Male	brain
36	chr1:210424000-210426600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:210424000-210426600	Active TSS	H9 Cell Line	embryonic stem cell
38	chr1:210424200-210424600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:210424200-210424600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:210424200-210424600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:210424200-210424600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:210424200-210424600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:210424200-210424600	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr1:210424200-210424600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
45	chr1:210424200-210424600	Enhancers	Pancreas	Pancrea
46	chr1:210424200-210424600	Active TSS	Right Ventricle	heart
47	chr1:210424200-210424600	Flanking Active TSS	Thymus	Thymus
48	chr1:210424200-210424600	Enhancers	Spleen	Spleen
49	chr1:210424200-210424600	Flanking Active TSS	A549	lung
50	chr1:210424200-210424600	Flanking Active TSS	HSMMtube	muscle

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