Variant report

Variant	rs188573980
Chromosome Location	chr5:98107511-98107512
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	JUND	chr5:98106929-98107552	K562	blood:	n/a	n/a
2	PRDM1	chr5:98106320-98107564	Hela-S3	cervix:	n/a	chr5:98106448-98106463 chr5:98106485-98106500
3	ARID3A	chr5:98107213-98107639	HepG2	liver:	n/a	n/a
4	MAZ	chr5:98107048-98107571	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr5:98107222-98107550	Kidney_OC	kidney:	n/a	n/a
6	STAT3	chr5:98107088-98107666	Hela-S3	cervix:	n/a	n/a
7	SMC3	chr5:98107255-98107646	K562	blood:	n/a	n/a
8	FOXA1	chr5:98107294-98107512	T-47D	breast:	n/a	n/a
9	FOS	chr5:98107241-98107576	MCF10A-Er-Src	breast:	n/a	n/a
10	ATF3	chr5:98107292-98107527	K562	blood:	n/a	n/a
11	CTCF	chr5:98107380-98107530	HPAF	blood vessel:	n/a	n/a
12	HDAC2	chr5:98107302-98107558	H1-hESC	embryonic stem cell:	n/a	n/a
13	ZNF143	chr5:98107234-98107633	GM12878	blood:	n/a	n/a
14	CEBPB	chr5:98106089-98107566	IMR90	lung:	n/a	chr5:98106944-98106961
15	CTCF	chr5:98106527-98107683	IMR90	lung:	n/a	n/a
16	CTCF	chr5:98107305-98107566	LNCaP	prostate:	n/a	n/a
17	CTCF	chr5:98107312-98107575	Spleen_OC	spleen:	n/a	n/a
18	CTCF	chr5:98107360-98107525	GM19240	blood:	n/a	n/a
19	RCOR1	chr5:98106022-98107574	Hela-S3	cervix:	n/a	n/a
20	RAD21	chr5:98107062-98107616	Hela-S3	cervix:	n/a	n/a
21	MAX	chr5:98107044-98107633	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr5:98107319-98107545	HepG2	liver:	n/a	n/a
23	CTCF	chr5:98107234-98107565	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr5:98106954-98107718	HCT-116	colon:	n/a	n/a
25	SIN3AK20	chr5:98107011-98107608	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr5:98107155-98107618	H1-hESC	embryonic stem cell:	n/a	n/a
27	SP1	chr5:98107192-98107664	H1-hESC	embryonic stem cell:	n/a	chr5:98107488-98107500 chr5:98107489-98107498
28	MAZ	chr5:98107264-98107613	K562	blood:	n/a	n/a
29	RAD21	chr5:98107161-98107732	MCF-7	breast:	n/a	n/a
30	ATF1	chr5:98107273-98107572	K562	blood:	n/a	n/a
31	CTCF	chr5:98107380-98107530	K562	blood:	n/a	n/a
32	TCF12	chr5:98106777-98107721	A549	lung:	n/a	n/a
33	RCOR1	chr5:98103712-98107759	IMR90	lung:	n/a	n/a
34	BHLHE40	chr5:98107253-98107669	GM12878	blood:	n/a	n/a
35	CTCF	chr5:98107236-98107646	K562	blood:	n/a	n/a
36	CTCF	chr5:98107380-98107530	BJ	skin:	n/a	n/a
37	FOXM1	chr5:98107156-98107640	GM12878	blood:	n/a	n/a
38	BCLAF1	chr5:98107015-98107639	GM12878	blood:	n/a	n/a
39	ELK1	chr5:98107256-98107583	GM12878	blood:	n/a	n/a
40	HDAC2	chr5:98107244-98107662	HepG2	liver:	n/a	n/a
41	ELF1	chr5:98107221-98107550	A549	lung:	n/a	n/a
42	CTCF	chr5:98107307-98107560	GM10248	blood:	n/a	n/a
43	SMC3	chr5:98103216-98107662	SK-N-SH	brain:	n/a	chr5:98104937-98104947 chr5:98104933-98104947
44	MAZ	chr5:98103628-98107877	IMR90	lung:	n/a	chr5:98104887-98104896 chr5:98104605-98104615
45	MYC	chr5:98106498-98107685	MCF10A-Er-Src	breast:	n/a	n/a
46	CTCF	chr5:98107380-98107530	MCF-7	breast:	n/a	n/a
47	MAX	chr5:98107212-98107652	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr5:98105261-98107576	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr5:98107420-98107570	HFF	foreskin:	n/a	n/a
50	SP1	chr5:98107175-98107663	A549	lung:	n/a	chr5:98107488-98107500 chr5:98107489-98107498

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:98102131..98106489-chr5:98107320..98111501,11	MCF-7	breast:
2	chr5:98102950..98105852-chr5:98106707..98108223,2	K562	blood:

Variant related genes	Relation type
RGMB	TF binding region
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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98103400-98107600	Active TSS	Brain Anterior Caudate	brain
2	chr5:98103800-98107600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr5:98103800-98107800	Active TSS	Brain Cingulate Gyrus	brain
4	chr5:98103800-98108000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:98103800-98108000	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr5:98103800-98108200	Active TSS	Fetal Kidney	kidney
7	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
8	chr5:98104000-98107600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr5:98104000-98107600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:98104000-98107600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
11	chr5:98104000-98107600	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr5:98104000-98107600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr5:98104000-98107800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:98104000-98108200	Active TSS	Fetal Intestine Large	intestine
15	chr5:98104000-98111400	Active TSS	Psoas Muscle	Psoas
16	chr5:98104000-98113400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:98104200-98108000	Active TSS	Brain Hippocampus Middle	brain
18	chr5:98104200-98111600	Active TSS	Right Atrium	heart
19	chr5:98104400-98107600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:98104400-98107800	Active TSS	NHLF	lung
21	chr5:98104400-98108000	Active TSS	Muscle Satellite Cultured Cells	--
22	chr5:98104400-98108200	Active TSS	Fetal Intestine Small	intestine
23	chr5:98104400-98109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:98104400-98110800	Active TSS	HSMMtube	muscle
25	chr5:98104600-98107600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr5:98104600-98107600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:98104600-98107600	Active TSS	NH-A	brain
28	chr5:98104600-98107800	Active TSS	HSMM	muscle
29	chr5:98104600-98107800	Active TSS	NHEK	skin
30	chr5:98104600-98108000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
31	chr5:98104600-98108200	Active TSS	Stomach Smooth Muscle	stomach
32	chr5:98104600-98108600	Active TSS	Fetal Stomach	stomach
33	chr5:98104800-98107600	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr5:98105000-98107600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr5:98105200-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:98105400-98107600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr5:98105600-98107600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:98105800-98107600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr5:98105800-98107800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr5:98105800-98108000	Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr5:98106000-98108800	Weak transcription	Spleen	Spleen
42	chr5:98106200-98107600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr5:98106200-98108000	Active TSS	Fetal Muscle Leg	muscle
44	chr5:98106400-98107600	Flanking Active TSS	Fetal Lung	lung
45	chr5:98106400-98107800	Active TSS	Brain Germinal Matrix	brain
46	chr5:98106400-98108600	Active TSS	Fetal Muscle Trunk	muscle
47	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:98106400-98108800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
50	chr5:98106400-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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