Variant report

Variant	rs369895550
Chromosome Location	chr2:74225618-74225619
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	REST	chr2:74224965-74226633	H1-neurons	neurons:	n/a	chr2:74225668-74225686 chr2:74225637-74225657 chr2:74225674-74225692 chr2:74225637-74225657
2	WRNIP1	chr2:74225602-74225646	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:74225386-74226465	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr2:74225284-74226206	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74225172..74227834-chr2:74230974..74232570,2	K562	blood:
2	chr17:57914589..57917529-chr2:74223236..74226145,2	MCF-7	breast:
3	chr2:74224410..74225996-chr2:74475910..74478077,2	MCF-7	breast:
4	chr2:74225365..74228086-chr2:74337531..74340333,2	K562	blood:
5	chr2:74224937..74227638-chr2:74357477..74359947,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-3	chr2:74225464-74225673	NONHSAT071659

Variant related genes	Relation type
TET3	TF binding region
ENSG00000188687	Chromatin interaction
ENSG00000062716	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	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv818048	chr2:74225434-74313080	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215800-74226800	Weak transcription	Colonic Mucosa	Colon
2	chr2:74215800-74226800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:74215800-74226800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:74215800-74227000	Weak transcription	Right Atrium	heart
5	chr2:74215800-74227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:74216000-74227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:74216000-74227000	Weak transcription	Small Intestine	intestine
9	chr2:74216400-74226600	Weak transcription	Fetal Heart	heart
10	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:74216600-74226800	Weak transcription	Fetal Kidney	kidney
12	chr2:74216600-74227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr2:74216800-74226600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:74216800-74226800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:74218000-74226800	Weak transcription	Liver	Liver
16	chr2:74219400-74226400	Strong transcription	Fetal Intestine Small	intestine
17	chr2:74220600-74227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:74220800-74226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:74220800-74226800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:74220800-74226800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:74220800-74226800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr2:74221000-74226400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:74221000-74226800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:74221200-74226000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:74221200-74226600	Weak transcription	Esophagus	oesophagus
27	chr2:74221200-74226600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:74221200-74226800	Weak transcription	Right Ventricle	heart
29	chr2:74221200-74227000	Weak transcription	Adipose Nuclei	Adipose
30	chr2:74221200-74227000	Weak transcription	NHLF	lung
31	chr2:74221200-74227200	Weak transcription	Gastric	stomach
32	chr2:74221200-74228800	Weak transcription	Psoas Muscle	Psoas
33	chr2:74221400-74226400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:74221400-74227200	Weak transcription	HSMMtube	muscle
35	chr2:74221400-74229000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:74221600-74226000	Weak transcription	NHEK	skin
37	chr2:74221800-74226600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr2:74222000-74226000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:74222000-74226000	Strong transcription	HepG2	liver
40	chr2:74222000-74226600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr2:74222600-74228400	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr2:74222600-74229200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr2:74222800-74226400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:74222800-74226600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:74222800-74226800	Strong transcription	Fetal Stomach	stomach
46	chr2:74222800-74229000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:74222800-74229200	Enhancers	Primary T cells fromperipheralblood	blood
48	chr2:74223000-74226000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:74223000-74226800	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:74223200-74226000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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