Variant report

Variant	rs538503598
Chromosome Location	chr5:74348508-74348509
allele	G/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	POLR2A	chr5:74348478-74348725	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:74348161-74348778	ProgFib	skin:	n/a	n/a
3	POLR2A	chr5:74348201-74349803	MCF10A-Er-Src	breast:	n/a	n/a
4	RAD21	chr5:74348379-74348791	IMR90	lung:	n/a	chr5:74348683-74348693
5	HA-E2F1	chr5:74348422-74350010	MCF-7	breast:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
6	MAX	chr5:74348107-74350140	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
7	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
8	TAF1	chr5:74348136-74348831	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr5:74348402-74348572	A549	lung:	n/a	n/a
10	CTCF	chr5:74348420-74348570	SAEC	small airway:	n/a	n/a
11	TCF7L2	chr5:74348460-74348887	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr5:74348269-74349771	MCF10A-Er-Src	breast:	n/a	n/a
13	MAX	chr5:74348302-74350086	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
14	HA-E2F1	chr5:74348326-74349360	Hela-S3	cervix:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
15	GABPA	chr5:74348411-74348825	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr5:74348380-74348530	AG09309	skin:	n/a	n/a
17	SIN3A	chr5:74348209-74350460	H1-hESC	embryonic stem cell:	n/a	chr5:74350029-74350040 chr5:74348893-74348906 chr5:74349002-74349015
18	TAF7	chr5:74347951-74350547	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAZ	chr5:74348470-74349322	Hela-S3	cervix:	n/a	chr5:74349168-74349178
20	TBP	chr5:74348194-74348873	H1-hESC	embryonic stem cell:	n/a	n/a
21	SMC3	chr5:74348285-74349347	Hela-S3	cervix:	n/a	chr5:74348934-74348944 chr5:74349084-74349098 chr5:74348988-74348998 chr5:74349091-74349098
22	POLR2A	chr5:74340910-74352626	H1-hESC	embryonic stem cell:	n/a	n/a
23	SMARCB1	chr5:74348241-74349402	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr5:74348072-74351062	H1-hESC	embryonic stem cell:	n/a	n/a
25	ELF1	chr5:74348233-74349202	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:74348165-74348698	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD31-1	chr5:74348254-74348668	XLOC_004890
2	lnc-ANKRD31-1	chr5:74348254-74348668	ENSG00000250889

Variant related genes	Relation type
ENSG00000250889	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription 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	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3439111	chr5:74348021-74350569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:74347000-74350000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:74347000-74350000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:74347200-74348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr5:74347200-74348800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:74347400-74348600	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr5:74347400-74349800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr5:74347400-74350000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:74347400-74350000	Active TSS	Brain Anterior Caudate	brain
13	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
14	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
15	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
16	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:74347400-74350400	Active TSS	Gastric	stomach
19	chr5:74347600-74349800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr5:74347600-74349800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:74347600-74349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr5:74347600-74349800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:74347600-74349800	Active TSS	Fetal Thymus	thymus
24	chr5:74347600-74349800	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr5:74347600-74349800	Active TSS	Thymus	Thymus
26	chr5:74347600-74350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:74347600-74350000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:74347600-74350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:74347600-74350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr5:74347600-74350000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr5:74347600-74350000	Active TSS	Primary T killer memory cells from peripheral blood	blood
32	chr5:74347600-74350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:74347600-74350000	Active TSS	Fetal Intestine Small	intestine
34	chr5:74347600-74350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:74347600-74350200	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr5:74347600-74350200	Active TSS	Fetal Intestine Large	intestine
37	chr5:74347600-74350400	Active TSS	Aorta	Aorta
38	chr5:74347600-74350400	Active TSS	Colon Smooth Muscle	Colon
39	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr5:74347800-74349200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:74347800-74349600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:74347800-74349800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:74347800-74349800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:74347800-74350000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr5:74347800-74350000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:74347800-74350000	Active TSS	NHLF	lung
48	chr5:74347800-74350200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:74347800-74350200	Active TSS	Brain Angular Gyrus	brain
50	chr5:74347800-74350200	Active TSS	Stomach Smooth Muscle	stomach

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