Variant report

Variant	rs117809190
Chromosome Location	chr5:74349865-74349866
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	TAF1	chr5:74348875-74350581	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr5:74349316-74349977	ProgFib	skin:	n/a	n/a
3	GTF2F1	chr5:74349452-74350465	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr5:74349265-74350092	IMR90	lung:	n/a	n/a
5	POLR2A	chr5:74349498-74349872	Gliobla	brain:	n/a	n/a
6	TBP	chr5:74349194-74350559	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:74349233-74350506	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr5:74349380-74349941	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr5:74349546-74350495	H1-hESC	embryonic stem cell:	n/a	n/a
10	TCF7L2	chr5:74349163-74350312	PANC-1	pancreas:	n/a	n/a
11	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
12	CREB1	chr5:74349300-74350258	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr5:74349465-74350678	SK-N-MC	brain:	n/a	n/a
14	MAX	chr5:74348107-74350140	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
15	ZNF263	chr5:74348697-74350032	HEK293-T-REx	kidney:	n/a	n/a
16	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
17	JUND	chr5:74349635-74350310	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr5:74348902-74350505	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr5:74349760-74349910	HEEpiC	esophagus:	n/a	n/a
20	POLR2A	chr5:74349708-74350052	H1-neurons	neurons:	n/a	n/a
21	MAX	chr5:74348302-74350086	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
22	SIN3A	chr5:74348209-74350460	H1-hESC	embryonic stem cell:	n/a	chr5:74350029-74350040 chr5:74348893-74348906 chr5:74349002-74349015
23	TAF7	chr5:74347951-74350547	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr5:74349236-74350677	SK-N-MC	brain:	n/a	n/a
25	NRF1	chr5:74349855-74350014	H1-hESC	embryonic stem cell:	n/a	n/a
26	NRF1	chr5:74349557-74350224	SK-N-SH	brain:	n/a	chr5:74349628-74349637
27	POLR2A	chr5:74349623-74350415	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr5:74349565-74349907	U87	brain:	n/a	n/a
29	MAX	chr5:74348992-74349959	MCF-7	breast:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
30	BACH1	chr5:74348686-74350492	H1-hESC	embryonic stem cell:	n/a	n/a
31	RCOR1	chr5:74349073-74350549	IMR90	lung:	n/a	n/a
32	RAD21	chr5:74349156-74349907	IMR90	lung:	n/a	chr5:74349338-74349347
33	POLR2A	chr5:74340910-74352626	H1-hESC	embryonic stem cell:	n/a	n/a
34	KAP1	chr5:74349572-74350122	HEK293	kidney:	n/a	n/a
35	STAT5A	chr5:74349785-74350094	GM12878	blood:	n/a	n/a
36	MAX	chr5:74349637-74350554	H1-hESC	embryonic stem cell:	n/a	chr5:74350503-74350512
37	POLR2A	chr5:74348718-74349944	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:74348072-74351062	H1-hESC	embryonic stem cell:	n/a	n/a
39	HDAC2	chr5:74348652-74349884	MCF-7	breast:	n/a	chr5:74348835-74348844
40	ATF2	chr5:74349551-74350155	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74349473..74351177-chr5:74531614..74533984,2	MCF-7	breast:
2	chr5:74349068..74351249-chr5:74356524..74358401,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250889	TF binding region
ENSG00000145700	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv598669	chr5:74348841-74351228	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh 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	chr5:74347400-74350000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:74347400-74350000	Active TSS	Brain Anterior Caudate	brain
9	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
10	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
11	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
12	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr5:74347400-74350400	Active TSS	Gastric	stomach
15	chr5:74347600-74350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:74347600-74350000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:74347600-74350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:74347600-74350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:74347600-74350000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr5:74347600-74350000	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr5:74347600-74350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:74347600-74350000	Active TSS	Fetal Intestine Small	intestine
23	chr5:74347600-74350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:74347600-74350200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr5:74347600-74350200	Active TSS	Fetal Intestine Large	intestine
26	chr5:74347600-74350400	Active TSS	Aorta	Aorta
27	chr5:74347600-74350400	Active TSS	Colon Smooth Muscle	Colon
28	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
29	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr5:74347800-74350000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr5:74347800-74350000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:74347800-74350000	Active TSS	NHLF	lung
33	chr5:74347800-74350200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:74347800-74350200	Active TSS	Brain Angular Gyrus	brain
35	chr5:74347800-74350200	Active TSS	Stomach Smooth Muscle	stomach
36	chr5:74347800-74350200	Active TSS	A549	lung
37	chr5:74348000-74350000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr5:74348000-74350000	Active TSS	Primary T cells from cord blood	blood
39	chr5:74348000-74350000	Active TSS	Brain Cingulate Gyrus	brain
40	chr5:74348000-74350000	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:74348000-74350000	Active TSS	Right Ventricle	heart
42	chr5:74348000-74350200	Active TSS	Right Atrium	heart
43	chr5:74348000-74350200	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr5:74348000-74350200	Active TSS	HSMMtube	muscle
45	chr5:74348000-74350400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:74348000-74350400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr5:74348000-74350400	Flanking Bivalent TSS/Enh	Dnd41	blood
48	chr5:74348000-74350600	Active TSS	Psoas Muscle	Psoas
49	chr5:74348000-74351000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:74348200-74350000	Flanking Active TSS	Primary B cells from cord blood	blood

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