Variant report

Variant	rs144223623
Chromosome Location	chr2:99345965-99345966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:99345820-99345970	NHDF-neo	bronchial:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99345360..99347894-chr2:99396622..99399352,2	MCF-7	breast:
2	chr2:99344922..99348721-chr2:99382903..99389092,6	MCF-7	breast:
3	chr2:99345368..99349321-chr2:99385005..99390572,6	MCF-7	breast:

Variant related genes	Relation type
MGAT4A	TF binding region
ENSG00000226791	Chromatin interaction
ENSG00000201070	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv535836	chr2:99329084-99353519	Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv535837	chr2:99329084-99358356	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv535838	chr2:99335416-99358356	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3377346	chr2:99345945-99348493	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99326400-99346400	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:99335200-99346600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:99337000-99346200	Weak transcription	Aorta	Aorta
4	chr2:99338000-99346200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:99338200-99346200	Weak transcription	Placenta	Placenta
6	chr2:99340200-99346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:99340200-99346600	Weak transcription	Esophagus	oesophagus
8	chr2:99340400-99346200	Weak transcription	Lung	lung
9	chr2:99342800-99346800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr2:99343000-99346000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:99343000-99346000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr2:99343000-99346200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:99343000-99346200	Weak transcription	NHEK	skin
14	chr2:99343000-99346600	Weak transcription	Gastric	stomach
15	chr2:99343600-99346200	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:99343800-99346200	Enhancers	Liver	Liver
17	chr2:99343800-99346800	Flanking Active TSS	Dnd41	blood
18	chr2:99344200-99346200	Weak transcription	Left Ventricle	heart
19	chr2:99344200-99348400	Active TSS	Primary T cells fromperipheralblood	blood
20	chr2:99344400-99346000	Weak transcription	Stomach Mucosa	stomach
21	chr2:99344600-99346000	Enhancers	Thymus	Thymus
22	chr2:99344600-99346200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:99344600-99346200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr2:99344600-99346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:99344600-99346200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:99344600-99346600	Weak transcription	Spleen	Spleen
27	chr2:99344600-99347000	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr2:99344600-99348600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:99344800-99346000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr2:99344800-99346200	Weak transcription	Fetal Kidney	kidney
31	chr2:99344800-99348600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr2:99345000-99346000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr2:99345000-99347000	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:99345000-99348800	Active TSS	Duodenum Mucosa	Duodenum
35	chr2:99345200-99346200	Weak transcription	GM12878-XiMat	blood
36	chr2:99345200-99346600	Flanking Active TSS	HUVEC	blood vessel
37	chr2:99345200-99348400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr2:99345400-99348400	Active TSS	Primary T cells from cord blood	blood
39	chr2:99345600-99346000	Active TSS	Brain Cingulate Gyrus	brain
40	chr2:99345600-99346000	Active TSS	Fetal Thymus	thymus
41	chr2:99345600-99346000	Flanking Active TSS	HepG2	liver
42	chr2:99345600-99346200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:99345600-99346200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr2:99345600-99346400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:99345600-99346400	Active TSS	Adipose Nuclei	Adipose
46	chr2:99345600-99347000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr2:99345600-99347000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:99345600-99348400	Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr2:99345600-99348400	Active TSS	Fetal Intestine Large	intestine
50	chr2:99345600-99349200	Active TSS	Colonic Mucosa	Colon

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