Variant report

Variant	rs375982935
Chromosome Location	chr5:98108112-98108113
allele	-/AT
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	MAZ	chr5:98108020-98110605	IMR90	lung:	n/a	chr5:98109181-98109191
2	POLR2A	chr5:98107933-98109677	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr5:98108028-98108178	MCF10A-Er-Src	breast:	n/a	n/a
4	HCFC1	chr5:98108112-98110714	Hela-S3	cervix:	n/a	n/a
5	KAP1	chr5:98107981-98109585	HEK293	kidney:	n/a	n/a
6	CTCF	chr5:98106325-98108512	SK-N-SH	brain:	n/a	chr5:98108010-98108017
7	POLR2A	chr5:98103782-98112496	IMR90	lung:	n/a	n/a
8	POLR2A	chr5:98107747-98110006	U87	brain:	n/a	n/a
9	ZNF263	chr5:98107892-98110575	HEK293-T-REx	kidney:	n/a	chr5:98109086-98109107 chr5:98109255-98109264
10	CTCF	chr5:98108080-98108230	GM06990	blood:	n/a	n/a
11	CTCF	chr5:98108020-98108170	A549	lung:	n/a	n/a
12	MXI1	chr5:98107889-98112517	IMR90	lung:	n/a	n/a
13	CTCF	chr5:98108040-98108190	SAEC	small airway:	n/a	n/a
14	CHD1	chr5:98103004-98112580	IMR90	lung:	n/a	chr5:98110353-98110363 chr5:98104638-98104648
15	MYC	chr5:98108015-98108376	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr5:98107741-98110666	U87	brain:	n/a	n/a
17	MXI1	chr5:98107942-98112468	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr5:98107919-98110578	ProgFib	skin:	n/a	n/a
19	E2F4	chr5:98106994-98108308	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr5:98107978-98110797	A549	lung:	n/a	chr5:98109181-98109191

No.	Distal block	Cell Line	Cell type
1	chr5:98102131..98106489-chr5:98107320..98111501,11	MCF-7	breast:
2	chr17:59476329..59477978-chr5:98107765..98110191,2	MCF-7	breast:
3	chr5:96517103..96519459-chr5:98107837..98111064,3	MCF-7	breast:
4	chr5:98102950..98105852-chr5:98106707..98108223,2	K562	blood:

Variant related genes	Relation type
RGMB	TF binding region
ENSG00000251513	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000058729	Chromatin interaction
ENSG00000174136	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882414	chr5:98063710-98193164	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3339628	chr5:98107452-98111750	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98103800-98108200	Active TSS	Fetal Kidney	kidney
2	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:98104000-98108200	Active TSS	Fetal Intestine Large	intestine
4	chr5:98104000-98111400	Active TSS	Psoas Muscle	Psoas
5	chr5:98104000-98113400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:98104200-98111600	Active TSS	Right Atrium	heart
7	chr5:98104400-98108200	Active TSS	Fetal Intestine Small	intestine
8	chr5:98104400-98109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr5:98104400-98110800	Active TSS	HSMMtube	muscle
10	chr5:98104600-98108200	Active TSS	Stomach Smooth Muscle	stomach
11	chr5:98104600-98108600	Active TSS	Fetal Stomach	stomach
12	chr5:98105200-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:98106000-98108800	Weak transcription	Spleen	Spleen
14	chr5:98106400-98108600	Active TSS	Fetal Muscle Trunk	muscle
15	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:98106400-98108800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
18	chr5:98106400-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:98106600-98108800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:98106600-98108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:98107000-98108400	Enhancers	Placenta Amnion	Placenta Amnion
22	chr5:98107000-98108400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr5:98107200-98108200	Weak transcription	Gastric	stomach
24	chr5:98107200-98108400	Weak transcription	Esophagus	oesophagus
25	chr5:98107200-98108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:98107200-98108600	Weak transcription	Small Intestine	intestine
27	chr5:98107400-98108200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:98107400-98108200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:98107400-98108200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
30	chr5:98107400-98108200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:98107400-98108200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:98107400-98108200	Enhancers	Liver	Liver
33	chr5:98107400-98108200	Weak transcription	Colonic Mucosa	Colon
34	chr5:98107400-98108200	Enhancers	Fetal Brain Male	brain
35	chr5:98107400-98108200	Enhancers	Fetal Heart	heart
36	chr5:98107400-98108200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr5:98107400-98108200	Weak transcription	Placenta	Placenta
38	chr5:98107400-98108200	Weak transcription	Lung	lung
39	chr5:98107400-98108200	Weak transcription	Pancreas	Pancrea
40	chr5:98107400-98108200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:98107400-98108200	Bivalent Enhancer	Dnd41	blood
42	chr5:98107400-98108400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:98107400-98108400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:98107400-98108400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
45	chr5:98107400-98108400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr5:98107400-98108400	Weak transcription	Ovary	ovary
47	chr5:98107400-98108400	Enhancers	Hela-S3	cervix
48	chr5:98107400-98108600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr5:98107400-98108600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:98107400-98108600	Weak transcription	Aorta	Aorta

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