Variant report

Variant	rs368073490
Chromosome Location	chr5:79950186-79950187
allele	A/G
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	chr5:79949416-79951701	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr5:79949816-79951683	Raji	blood:	n/a	n/a
3	MYC	chr5:79950167-79950544	K562	blood:	n/a	n/a
4	MAX	chr5:79949924-79950886	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:79949826-79951549	GM19193	blood:	n/a	n/a
6	POLR2A	chr5:79949921-79951367	GM10847	blood:	n/a	n/a
7	SIN3A	chr5:79949104-79951221	H1-hESC	embryonic stem cell:	n/a	chr5:79950816-79950827 chr5:79949531-79949539
8	POLR2A	chr5:79949794-79951638	MCF-7	breast:	n/a	n/a
9	POLR2A	chr5:79949851-79951173	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:79949856-79951727	GM19099	blood:	n/a	n/a
11	SIN3AK20	chr5:79950127-79950393	HepG2	liver:	n/a	n/a
12	TAF1	chr5:79949869-79951146	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3AK20	chr5:79949748-79951402	MCF-7	breast:	n/a	n/a
14	POLR2A	chr5:79948603-79951714	GM12878	blood:	n/a	n/a
15	POLR2A	chr5:79950030-79951245	GM12892	blood:	n/a	n/a
16	POLR2A	chr5:79949736-79951618	GM12878	blood:	n/a	n/a
17	MAX	chr5:79950040-79951252	HCT-116	colon:	n/a	n/a
18	POLR2A	chr5:79950079-79951231	HCT-116	colon:	n/a	n/a
19	EBF1	chr5:79949828-79950319	GM12878	blood:	n/a	n/a
20	CCNT2	chr5:79949448-79951322	K562	blood:	n/a	chr5:79950385-79950394 chr5:79950824-79950833 chr5:79950816-79950825
21	E2F4	chr5:79949922-79951078	K562	blood:	n/a	chr5:79950363-79950371 chr5:79950516-79950526 chr5:79950368-79950375 chr5:79950852-79950861 chr5:79950367-79950376 chr5:79950368-79950375 chr5:79950824-79950833 chr5:79950368-79950375 chr5:79950385-79950394
22	POLR2A	chr5:79949908-79951666	U87	brain:	n/a	n/a
23	TCF3	chr5:79950086-79950880	GM12878	blood:	n/a	n/a
24	TBP	chr5:79949866-79951226	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr5:79949798-79951220	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr5:79949810-79951741	GM12878	blood:	n/a	n/a
27	POLR2A	chr5:79949929-79951208	MCF-7	breast:	n/a	n/a
28	POLR2A	chr5:79949962-79951182	HCT-116	colon:	n/a	n/a
29	PAX5	chr5:79949986-79950244	GM12892	blood:	n/a	chr5:79950003-79950012
30	POLR2A	chr5:79949192-79951540	K562	blood:	n/a	n/a
31	POU2F2	chr5:79949990-79951234	GM12878	blood:	n/a	chr5:79950816-79950828 chr5:79950819-79950831
32	POLR2A	chr5:79950118-79951295	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr5:79949770-79951251	K562	blood:	n/a	n/a
34	POLR2A	chr5:79950163-79950812	HepG2	liver:	n/a	n/a
35	POLR2A	chr5:79949922-79951758	U87	brain:	n/a	n/a
36	HEY1	chr5:79950090-79951169	K562	blood:	n/a	chr5:79950819-79950834
37	POLR2A	chr5:79949470-79951611	MCF10A-Er-Src	breast:	n/a	n/a
38	POLR2A	chr5:79949935-79951166	GM12878	blood:	n/a	n/a
39	CEBPB	chr5:79950093-79951524	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr5:79949759-79951597	Hela-S3	cervix:	n/a	n/a
41	HEY1	chr5:79949698-79950412	HepG2	liver:	n/a	n/a
42	POLR2A	chr5:79950006-79951287	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr5:79950028-79950825	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr5:79949879-79951586	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr5:79950010-79950392	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr5:79949931-79951493	K562	blood:	n/a	n/a
47	POLR2A	chr5:79949921-79951208	MCF-7	breast:	n/a	n/a
48	TAF1	chr5:79950056-79950428	K562	blood:	n/a	n/a
49	SP1	chr5:79950096-79951148	GM12878	blood:	n/a	chr5:79950825-79950834 chr5:79950384-79950394 chr5:79950851-79950862 chr5:79950820-79950834 chr5:79950853-79950862 chr5:79950384-79950393 chr5:79950824-79950834 chr5:79950383-79950395 chr5:79950384-79950398 chr5:79950824-79950833 chr5:79950384-79950394 chr5:79950823-79950834 chr5:79950895-79950904 chr5:79950383-79950395 chr5:79950823-79950835 chr5:79950384-79950393 chr5:79950825-79950834 chr5:79950852-79950861 chr5:79950824-79950834 chr5:79950385-79950394 chr5:79950823-79950835
50	TAF1	chr5:79949936-79951150	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:79950108..79951095-chr6:27860383..27860953,2	Hela-S3	cervix:
2	chr5:79781713..79786255-chr5:79948613..79954295,12	MCF-7	breast:
3	chr5:79782822..79786705-chr5:79948261..79952248,11	MCF-7	breast:
4	chr5:79918045..79920951-chr5:79949482..79951097,2	MCF-7	breast:
5	chr5:79950077..79950796-chr6:26199069..26200065,2	NB4	blood:
6	chr5:79702114..79706204-chr5:79947823..79953616,8	MCF-7	breast:

Variant related genes	Relation type
MSH3	TF binding region
DHFR	TF binding region
MTRNR2L2	TF binding region
ENSG00000197846	Chromatin interaction
ENSG00000197409	Chromatin interaction
ENSG00000251221	Chromatin interaction
ENSG00000196866	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000152380	Chromatin interaction
ENSG00000249042	Chromatin interaction
ENSG00000039319	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	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3406922	chr5:79949421-79951969	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79948600-79950200	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr5:79948600-79951200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr5:79948600-79952000	Active TSS	GM12878-XiMat	blood
4	chr5:79948800-79951400	Active TSS	Fetal Intestine Large	intestine
5	chr5:79949000-79950200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr5:79949000-79950200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:79949000-79950200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:79949000-79950200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:79949000-79950200	Flanking Active TSS	Liver	Liver
10	chr5:79949000-79950200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr5:79949000-79950200	Flanking Active TSS	HUVEC	blood vessel
12	chr5:79949000-79951200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:79949000-79951200	Active TSS	Stomach Mucosa	stomach
14	chr5:79949000-79951400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr5:79949000-79951400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr5:79949000-79951400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:79949000-79951400	Active TSS	Fetal Intestine Small	intestine
18	chr5:79949000-79951600	Active TSS	A549	lung
19	chr5:79949200-79950200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr5:79949200-79950200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr5:79949200-79950200	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr5:79949200-79950200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr5:79949200-79950200	Flanking Active TSS	Fetal Brain Female	brain
24	chr5:79949200-79950200	Flanking Active TSS	Fetal Stomach	stomach
25	chr5:79949200-79950200	Flanking Active TSS	Fetal Thymus	thymus
26	chr5:79949200-79950200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr5:79949200-79951200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:79949200-79951200	Active TSS	Brain Cingulate Gyrus	brain
29	chr5:79949200-79951400	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr5:79949200-79951400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:79949200-79951400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:79949200-79951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr5:79949200-79951600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:79949200-79951600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr5:79949200-79951600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:79949200-79952000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr5:79949400-79950200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr5:79949400-79950200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr5:79949400-79950200	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr5:79949400-79950200	Flanking Active TSS	Osteobl	bone
41	chr5:79949400-79951400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:79949400-79951400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:79949400-79951400	Active TSS	NHLF	lung
44	chr5:79949400-79951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:79949600-79950200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr5:79949600-79950200	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr5:79949600-79950200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:79949600-79950200	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr5:79949600-79950200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr5:79949600-79950200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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