Variant report

Variant	rs556358235
Chromosome Location	chr5:98107693-98107694
allele	A/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	chr5:98107600-98107750	GM12801	blood:	n/a	n/a
2	CTCF	chr5:98106954-98107718	HCT-116	colon:	n/a	n/a
3	RAD21	chr5:98107161-98107732	MCF-7	breast:	n/a	n/a
4	TCF12	chr5:98106777-98107721	A549	lung:	n/a	n/a
5	RCOR1	chr5:98103712-98107759	IMR90	lung:	n/a	n/a
6	MAZ	chr5:98103628-98107877	IMR90	lung:	n/a	chr5:98104887-98104896 chr5:98104605-98104615
7	RAD21	chr5:98107045-98107736	HCT-116	colon:	n/a	n/a
8	RAD21	chr5:98107098-98107730	A549	lung:	n/a	n/a
9	CTCF	chr5:98106325-98108512	SK-N-SH	brain:	n/a	chr5:98108010-98108017
10	POLR2A	chr5:98103782-98112496	IMR90	lung:	n/a	n/a
11	TCF7L2	chr5:98107028-98107771	HEK293	kidney:	n/a	chr5:98107577-98107586 chr5:98107573-98107589
12	RAD21	chr5:98103065-98107819	SK-N-SH	brain:	n/a	chr5:98104757-98104769 chr5:98104608-98104620 chr5:98104932-98104951 chr5:98104937-98104949 chr5:98104937-98104947
13	CTCF	chr5:98107110-98107698	MCF-7	breast:	n/a	n/a
14	ZNF143	chr5:98107242-98107841	K562	blood:	n/a	n/a
15	CHD1	chr5:98103004-98112580	IMR90	lung:	n/a	chr5:98110353-98110363 chr5:98104638-98104648
16	MXI1	chr5:98103700-98107724	IMR90	lung:	n/a	n/a
17	KAP1	chr5:98105735-98107700	HEK293	kidney:	n/a	n/a
18	NFIC	chr5:98104379-98107738	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr5:98106959-98107761	A549	lung:	n/a	n/a
20	E2F4	chr5:98106994-98108308	MCF10A-Er-Src	breast:	n/a	n/a
21	REST	chr5:98103530-98107747	H1-neurons	neurons:	n/a	chr5:98104769-98104782
22	CUX1	chr5:98106973-98107713	GM12878	blood:	n/a	chr5:98107582-98107596 chr5:98107588-98107597

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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98103800-98107800	Active TSS	Brain Cingulate Gyrus	brain
2	chr5:98103800-98108000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:98103800-98108000	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr5:98103800-98108200	Active TSS	Fetal Kidney	kidney
5	chr5:98103800-98112600	Active TSS	Rectal Smooth Muscle	rectum
6	chr5:98104000-98107800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:98104000-98108200	Active TSS	Fetal Intestine Large	intestine
8	chr5:98104000-98111400	Active TSS	Psoas Muscle	Psoas
9	chr5:98104000-98113400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:98104200-98108000	Active TSS	Brain Hippocampus Middle	brain
11	chr5:98104200-98111600	Active TSS	Right Atrium	heart
12	chr5:98104400-98107800	Active TSS	NHLF	lung
13	chr5:98104400-98108000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr5:98104400-98108200	Active TSS	Fetal Intestine Small	intestine
15	chr5:98104400-98109800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:98104400-98110800	Active TSS	HSMMtube	muscle
17	chr5:98104600-98107800	Active TSS	HSMM	muscle
18	chr5:98104600-98107800	Active TSS	NHEK	skin
19	chr5:98104600-98108000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr5:98104600-98108200	Active TSS	Stomach Smooth Muscle	stomach
21	chr5:98104600-98108600	Active TSS	Fetal Stomach	stomach
22	chr5:98105200-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:98105800-98107800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:98105800-98108000	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:98106000-98108800	Weak transcription	Spleen	Spleen
26	chr5:98106200-98108000	Active TSS	Fetal Muscle Leg	muscle
27	chr5:98106400-98107800	Active TSS	Brain Germinal Matrix	brain
28	chr5:98106400-98108600	Active TSS	Fetal Muscle Trunk	muscle
29	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:98106400-98108800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:98106400-98108800	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
32	chr5:98106400-98109400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:98106600-98108800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:98106600-98108800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:98106800-98107800	Active TSS	Duodenum Mucosa	Duodenum
36	chr5:98107000-98108400	Enhancers	Placenta Amnion	Placenta Amnion
37	chr5:98107000-98108400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr5:98107200-98108000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:98107200-98108200	Weak transcription	Gastric	stomach
40	chr5:98107200-98108400	Weak transcription	Esophagus	oesophagus
41	chr5:98107200-98108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:98107200-98108600	Weak transcription	Small Intestine	intestine
43	chr5:98107400-98107800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:98107400-98107800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr5:98107400-98107800	Weak transcription	Brain Angular Gyrus	brain
46	chr5:98107400-98107800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr5:98107400-98107800	Flanking Active TSS	Osteobl	bone
48	chr5:98107400-98108000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:98107400-98108000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:98107400-98108000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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