Variant report

Variant	rs190432455
Chromosome Location	chr13:96328563-96328564
allele	A/C
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	chr13:96328335-96330029	GM18526	blood:	n/a	n/a
2	CEBPB	chr13:96328262-96328825	IMR90	lung:	n/a	n/a
3	POLR2A	chr13:96328328-96329699	GM12878	blood:	n/a	n/a
4	POLR2A	chr13:96328334-96329690	GM12878	blood:	n/a	n/a
5	MXI1	chr13:96328102-96331205	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr13:96327871-96330548	PBDE	blood:	n/a	n/a
7	POLR2A	chr13:96328287-96330029	K562	blood:	n/a	n/a
8	MAX	chr13:96328443-96329873	HCT-116	colon:	n/a	chr13:96329358-96329368
9	BACH1	chr13:96328366-96329095	H1-hESC	embryonic stem cell:	n/a	n/a
10	MTA3	chr13:96328238-96329177	GM12878	blood:	n/a	n/a
11	FOS	chr13:96328472-96328671	MCF10A-Er-Src	breast:	n/a	n/a
12	CREB1	chr13:96328202-96329895	HepG2	liver:	n/a	n/a
13	POLR2A	chr13:96328065-96329699	K562	blood:	n/a	n/a
14	POLR2A	chr13:96328315-96330194	NB4	blood:	n/a	n/a
15	IRF1	chr13:96328182-96329594	K562	blood:	n/a	chr13:96329355-96329369 chr13:96329232-96329246
16	MYC	chr13:96327966-96328748	MCF10A-Er-Src	breast:	n/a	n/a
17	REST	chr13:96328205-96329839	HL-60	blood:	n/a	chr13:96329792-96329805 chr13:96329358-96329371
18	ZKSCAN1	chr13:96328372-96329916	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:96327780-96329630	K562	blood:	n/a	n/a
20	POLR2A	chr13:96328269-96330465	GM12891	blood:	n/a	n/a
21	CHD2	chr13:96328430-96329733	GM12878	blood:	n/a	chr13:96329234-96329244
22	WRNIP1	chr13:96328365-96329089	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:96328328-96329653	K562	blood:	n/a	n/a
24	RELA	chr13:96328398-96329610	GM19099	blood:	n/a	n/a
25	TAL1	chr13:96328366-96329217	K562	blood:	n/a	n/a
26	POLR2A	chr13:96328408-96329267	HepG2	liver:	n/a	n/a
27	FOS	chr13:96328338-96328740	MCF10A-Er-Src	breast:	n/a	n/a
28	KAP1	chr13:96328402-96329102	U2OS	brain:	n/a	n/a
29	MYC	chr13:96328275-96330568	NB4	blood:	n/a	chr13:96329358-96329368
30	ARID3A	chr13:96328413-96329579	HepG2	liver:	n/a	n/a
31	RUNX3	chr13:96328348-96330569	GM12878	blood:	n/a	chr13:96330200-96330209 chr13:96330200-96330209
32	POLR2A	chr13:96328340-96329714	K562	blood:	n/a	n/a
33	E2F6	chr13:96328396-96330211	K562	blood:	n/a	chr13:96329449-96329458 chr13:96329239-96329249 chr13:96329842-96329851
34	TBP	chr13:96328442-96329669	H1-hESC	embryonic stem cell:	n/a	n/a
35	ELF1	chr13:96328305-96329931	GM12878	blood:	n/a	chr13:96329325-96329334 chr13:96329790-96329802 chr13:96329359-96329371 chr13:96329352-96329364 chr13:96329243-96329255 chr13:96329186-96329198
36	NFIC	chr13:96328245-96329612	GM12878	blood:	n/a	n/a
37	CHD2	chr13:96328380-96330032	Hela-S3	cervix:	n/a	chr13:96329234-96329244
38	CEBPB	chr13:96328303-96329049	HepG2	liver:	n/a	n/a
39	SPI1	chr13:96328125-96328873	HL-60	blood:	n/a	n/a
40	MXI1	chr13:96328302-96330598	GM12878	blood:	n/a	n/a
41	SPI1	chr13:96328290-96328595	GM12878	blood:	n/a	n/a
42	POLR2A	chr13:96328416-96329672	Hela-S3	cervix:	n/a	n/a
43	ZNF143	chr13:96328358-96329627	Hela-S3	cervix:	n/a	chr13:96329603-96329613 chr13:96329188-96329198 chr13:96329428-96329438
44	POLR2A	chr13:96328350-96329704	Hela-S3	cervix:	n/a	n/a
45	MXI1	chr13:96328339-96330086	HepG2	liver:	n/a	n/a
46	TAF1	chr13:96328542-96329659	H1-hESC	embryonic stem cell:	n/a	n/a
47	RAD21	chr13:96328473-96329799	IMR90	lung:	n/a	chr13:96329370-96329389 chr13:96329455-96329469
48	TAF1	chr13:96328536-96330002	ECC-1	luminal epithelium:	n/a	n/a
49	SIN3A	chr13:96328335-96330554	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr13:96328547-96328747	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:96328115..96328997-chr3:49058919..49059437,2	Hela-S3	cervix:
2	chr13:96327826..96331109-chr13:96365382..96368282,3	MCF-7	breast:
3	chr13:96327692..96330287-chr13:96346205..96350903,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DZIP1-1	chr13:96328106-96329179	XLOC_010698
2	lnc-DZIP1-1	chr13:96325124-96329183	NONHSAT034769

Variant related genes	Relation type
DNAJC3	TF binding region
ENSG00000232373	Chromatin interaction
ENSG00000178057	Chromatin interaction
ENSG00000227714	Chromatin interaction
ENSG00000251901	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3406527	chr13:96328176-96330724	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96325600-96332400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:96327000-96330600	Active TSS	Duodenum Mucosa	Duodenum
3	chr13:96327000-96330800	Active TSS	Fetal Intestine Large	intestine
4	chr13:96327000-96331000	Active TSS	K562	blood
5	chr13:96327000-96331800	Active TSS	GM12878-XiMat	blood
6	chr13:96327200-96331000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr13:96327400-96331000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr13:96327600-96328600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:96327600-96328600	Flanking Active TSS	Dnd41	blood
10	chr13:96327600-96329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:96327600-96329000	Active TSS	Right Atrium	heart
12	chr13:96327600-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:96327600-96330000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr13:96327600-96330400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr13:96327600-96330600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:96327600-96330800	Active TSS	Fetal Intestine Small	intestine
17	chr13:96327600-96331000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:96327600-96331000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr13:96327600-96331000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr13:96327600-96331000	Active TSS	HMEC	breast
21	chr13:96327600-96331200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr13:96327600-96331400	Active TSS	Right Ventricle	heart
23	chr13:96327800-96328600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr13:96327800-96328600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr13:96327800-96328600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr13:96327800-96328600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr13:96327800-96328600	Flanking Active TSS	Rectal Smooth Muscle	rectum
28	chr13:96327800-96328600	Flanking Active TSS	HUVEC	blood vessel
29	chr13:96327800-96329000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr13:96327800-96329000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr13:96327800-96329000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr13:96327800-96329400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr13:96327800-96331000	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr13:96328000-96328600	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr13:96328000-96328600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr13:96328000-96328600	Flanking Active TSS	Fetal Lung	lung
37	chr13:96328000-96328600	Active TSS	Placenta	Placenta
38	chr13:96328000-96328600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr13:96328000-96328600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr13:96328000-96328800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr13:96328000-96328800	Flanking Active TSS	Osteobl	bone
42	chr13:96328000-96329000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr13:96328000-96329000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:96328000-96329000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr13:96328000-96329000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr13:96328000-96330200	Active TSS	Brain Anterior Caudate	brain
47	chr13:96328000-96330200	Active TSS	Fetal Brain Female	brain
48	chr13:96328000-96330400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:96328000-96330600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr13:96328000-96330600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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