Variant report

Variant	rs372407818
Chromosome Location	chr5:14871418-14871419
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	ELF1	chr5:14871293-14871657	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:14871388-14873149	H1-neurons	neurons:	n/a	n/a
3	EGR1	chr5:14871253-14871484	K562	blood:	n/a	chr5:14871387-14871401
4	POLR2A	chr5:14871370-14873359	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr5:14871350-14871562	Hela-S3	cervix:	n/a	n/a
6	ZBTB7A	chr5:14871386-14871743	K562	blood:	n/a	n/a
7	CTCF	chr5:14871347-14872907	SK-N-SH	brain:	n/a	chr5:14872424-14872437
8	RCOR1	chr5:14870660-14871484	Hela-S3	cervix:	n/a	n/a
9	MXI1	chr5:14870995-14873284	IMR90	lung:	n/a	n/a
10	MYC	chr5:14871019-14873110	NB4	blood:	n/a	n/a
11	SMARCB1	chr5:14871303-14873122	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr5:14870966-14871609	Hela-S3	cervix:	n/a	n/a
13	MAX	chr5:14871312-14873135	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr5:14871121-14873136	Hela-S3	cervix:	n/a	chr5:14872382-14872392
15	EGR1	chr5:14871301-14871450	GM12878	blood:	n/a	chr5:14871387-14871401
16	MAX	chr5:14871282-14872828	K562	blood:	n/a	n/a
17	SIN3AK20	chr5:14871289-14871487	PANC-1	pancreas:	n/a	n/a
18	CTCF	chr5:14871380-14871530	AG04449	skin:	n/a	n/a
19	CTCF	chr5:14870340-14873263	A549	lung:	n/a	chr5:14872424-14872437
20	POLR2A	chr5:14871307-14873049	H1-neurons	neurons:	n/a	n/a
21	MAZ	chr5:14871122-14873170	IMR90	lung:	n/a	n/a
22	MAZ	chr5:14871398-14873063	Hela-S3	cervix:	n/a	n/a
23	MAX	chr5:14871275-14872814	MCF-7	breast:	n/a	n/a
24	ZNF143	chr5:14871390-14871512	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr5:14871279-14871598	Hela-S3	cervix:	n/a	n/a
26	MAFK	chr5:14870938-14871492	Hela-S3	cervix:	n/a	n/a
27	EGR1	chr5:14871256-14871491	K562	blood:	n/a	chr5:14871387-14871401
28	MYC	chr5:14871060-14873114	Hela-S3	cervix:	n/a	n/a
29	TFAP2A	chr5:14871344-14873013	Hela-S3	cervix:	n/a	chr5:14871592-14871604 chr5:14872295-14872307 chr5:14872448-14872463 chr5:14872321-14872333
30	EBF1	chr5:14871402-14871603	GM12878	blood:	n/a	n/a
31	NRF1	chr5:14871402-14872363	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr5:14871383-14872726	MCF-7	breast:	n/a	n/a
33	MXI1	chr5:14869184-14873385	SK-N-SH	brain:	n/a	chr5:14869848-14869857
34	MAX	chr5:14871004-14871493	NB4	blood:	n/a	n/a
35	EGR1	chr5:14871278-14871478	GM12878	blood:	n/a	chr5:14871387-14871401
36	TFAP2C	chr5:14871349-14873112	Hela-S3	cervix:	n/a	chr5:14872622-14872637
37	POLR2A	chr5:14871049-14873169	Hela-S3	cervix:	n/a	n/a
38	EP300	chr5:14871417-14872392	SK-N-SH	brain:	n/a	n/a
39	SMC3	chr5:14871036-14871551	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14870499..14873628-chr5:14876677..14878722,3	MCF-7	breast:
2	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
3	chr10:93683034..93683876-chr5:14871412..14872027,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000272057	TF binding region
ENSG00000250662	Chromatin interaction
ENSG00000095564	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv3439895	chr5:14870477-14873325	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3409961	chr5:14870827-14873250	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14869000-14871600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr5:14869400-14872800	Active TSS	Rectal Smooth Muscle	rectum
3	chr5:14869400-14873000	Active TSS	Aorta	Aorta
4	chr5:14869600-14873000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:14869600-14873200	Active TSS	Brain Cingulate Gyrus	brain
6	chr5:14869600-14873200	Active TSS	Fetal Intestine Small	intestine
7	chr5:14869800-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:14869800-14873000	Active TSS	Left Ventricle	heart
9	chr5:14869800-14873200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:14869800-14873200	Active TSS	Right Ventricle	heart
11	chr5:14870000-14871600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:14870000-14872000	Active TSS	Right Atrium	heart
13	chr5:14870000-14872800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:14870000-14872800	Active TSS	Pancreas	Pancrea
15	chr5:14870000-14873000	Active TSS	Colonic Mucosa	Colon
16	chr5:14870000-14873000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr5:14870000-14873000	Active TSS	Esophagus	oesophagus
18	chr5:14870000-14873000	Active TSS	Fetal Intestine Large	intestine
19	chr5:14870200-14871600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:14870200-14871600	Active TSS	Brain Substantia Nigra	brain
21	chr5:14870200-14872600	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr5:14870200-14872800	Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr5:14870200-14872800	Active TSS	Brain Hippocampus Middle	brain
24	chr5:14870200-14872800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr5:14870200-14872800	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr5:14870200-14872800	Active TSS	NHLF	lung
27	chr5:14870200-14873000	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr5:14870200-14873000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:14870200-14873000	Active TSS	Gastric	stomach
30	chr5:14870200-14873000	Active TSS	Psoas Muscle	Psoas
31	chr5:14870200-14873000	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr5:14870200-14873000	Active TSS	HSMMtube	muscle
33	chr5:14870200-14873000	Active TSS	Osteobl	bone
34	chr5:14870200-14873200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:14870200-14873200	Active TSS	Brain Angular Gyrus	brain
36	chr5:14870200-14873200	Active TSS	Brain Anterior Caudate	brain
37	chr5:14870200-14873200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:14870200-14873400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr5:14870400-14871600	Flanking Active TSS	Placenta	Placenta
40	chr5:14870400-14871600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr5:14870400-14872800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr5:14870400-14873000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:14870400-14873200	Active TSS	Colon Smooth Muscle	Colon
44	chr5:14870600-14871600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr5:14870600-14871600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:14870600-14871600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr5:14870600-14871600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr5:14870600-14871600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
49	chr5:14870600-14871600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr5:14870600-14872400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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