Variant report

Variant	rs144507193
Chromosome Location	chr2:10334538-10334539
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:10334377-10334998	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr2:10334339-10335180	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr2:10334408-10334761	HepG2	liver:	n/a	n/a
4	NFIC	chr2:10334385-10335040	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10333609..10335207-chr2:10346879..10348820,2	K562	blood:
2	chr2:10272209..10275438-chr2:10333614..10336814,3	K562	blood:
3	chr2:10260909..10263628-chr2:10332391..10334618,3	K562	blood:
4	chr2:10333815..10336556-chr2:10366578..10368507,2	MCF-7	breast:
5	chr16:2902125..2904816-chr2:10333422..10334922,2	MCF-7	breast:
6	chr2:10276382..10278828-chr2:10333001..10334634,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4261	TF binding region
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873634	chr2:10275814-10337034	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv873635	chr2:10286466-10344465	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	esv3357463	chr2:10333551-10336049	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv818977	chr2:10333767-10393038	Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10290200-10351400	Strong transcription	Dnd41	blood
2	chr2:10302400-10337600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:10304400-10339800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:10311800-10337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:10313000-10344400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:10314000-10340400	Weak transcription	HepG2	liver
7	chr2:10320600-10337200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10320800-10336800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10321800-10338000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:10325600-10342800	Weak transcription	Fetal Brain Female	brain
11	chr2:10326600-10339400	Strong transcription	Thymus	Thymus
12	chr2:10328200-10336600	Weak transcription	Brain Germinal Matrix	brain
13	chr2:10328800-10336600	Weak transcription	Gastric	stomach
14	chr2:10329000-10337200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:10332000-10337400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr2:10332400-10335200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:10332600-10334600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:10333000-10334600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:10333000-10334600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:10333000-10334800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:10333000-10335200	Enhancers	Fetal Lung	lung
22	chr2:10333000-10347000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:10333200-10334600	Enhancers	NHLF	lung
24	chr2:10333200-10334600	Enhancers	Osteobl	bone
25	chr2:10333200-10334800	Enhancers	NHDF-Ad	bronchial
26	chr2:10333400-10334800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:10333400-10334800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr2:10333400-10335000	Enhancers	Fetal Stomach	stomach
29	chr2:10333400-10335200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:10333600-10334600	Enhancers	Placenta	Placenta
31	chr2:10333600-10335200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:10333600-10336600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:10333600-10336800	Strong transcription	Fetal Thymus	thymus
34	chr2:10333800-10334600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:10333800-10334600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:10333800-10334600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:10333800-10334600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:10333800-10334600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:10333800-10334600	Enhancers	NH-A	brain
40	chr2:10333800-10335000	Enhancers	Esophagus	oesophagus
41	chr2:10334000-10334600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr2:10334200-10337000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr2:10334400-10334600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:10334400-10334600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:10334400-10334600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr2:10334400-10335400	Weak transcription	Spleen	Spleen
47	chr2:10334400-10336200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:10334400-10336200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:10334400-10336400	Strong transcription	Fetal Intestine Small	intestine
50	chr2:10334400-10336800	Weak transcription	Fetal Brain Male	brain

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