Variant report

Variant	rs78303566
Chromosome Location	chr3:196295163-196295164
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	chr3:196294841-196295901	Hela-S3	cervix:	n/a	n/a
2	BHLHE40	chr3:196295162-196295671	K562	blood:	n/a	chr3:196295647-196295663
3	CREB1	chr3:196294989-196295767	ECC-1	luminal epithelium:	n/a	n/a
4	SIX5	chr3:196295136-196295702	A549	lung:	n/a	n/a
5	SIN3AK20	chr3:196295079-196296388	PANC-1	pancreas:	n/a	n/a
6	HEY1	chr3:196295054-196295926	HepG2	liver:	n/a	chr3:196295565-196295580
7	MAX	chr3:196295096-196295804	A549	lung:	n/a	chr3:196295552-196295561
8	MBD4	chr3:196295070-196295453	HepG2	liver:	n/a	n/a
9	SP4	chr3:196294987-196295620	H1-hESC	embryonic stem cell:	n/a	chr3:196295402-196295413
10	POLR2A	chr3:196295110-196296220	A549	lung:	n/a	n/a
11	ATF1	chr3:196295005-196295685	K562	blood:	n/a	n/a
12	MAZ	chr3:196295132-196295775	K562	blood:	n/a	chr3:196295552-196295561
13	HCFC1	chr3:196293701-196297089	Hela-S3	cervix:	n/a	n/a
14	SIN3AK20	chr3:196295044-196295901	SK-N-SH	brain:	n/a	n/a
15	SRF	chr3:196295087-196295855	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr3:196294913-196295833	GM12878	blood:	n/a	n/a
17	FOXM1	chr3:196295064-196295739	GM12878	blood:	n/a	n/a
18	E2F6	chr3:196294950-196295806	H1-hESC	embryonic stem cell:	n/a	chr3:196295393-196295404
19	MAX	chr3:196295008-196295936	A549	lung:	n/a	chr3:196295552-196295561
20	SRF	chr3:196295023-196295807	MCF-7	breast:	n/a	n/a
21	MAX	chr3:196295039-196295873	SK-N-SH	brain:	n/a	chr3:196295552-196295561
22	POLR2A	chr3:196295127-196295845	SK-N-MC	brain:	n/a	n/a
23	EP300	chr3:196294969-196295851	T-47D	breast:	n/a	chr3:196295608-196295617 chr3:196295610-196295626
24	UBTF	chr3:196295088-196296545	K562	blood:	n/a	n/a
25	HA-E2F1	chr3:196295124-196296256	Hela-S3	cervix:	n/a	n/a
26	MAX	chr3:196295159-196295782	NB4	blood:	n/a	chr3:196295552-196295561
27	SP1	chr3:196295127-196295832	A549	lung:	n/a	chr3:196295402-196295413
28	CREB1	chr3:196294937-196295755	ECC-1	luminal epithelium:	n/a	n/a
29	SIN3AK20	chr3:196295134-196295935	K562	blood:	n/a	n/a
30	POLR2A	chr3:196295161-196295848	HepG2	liver:	n/a	n/a
31	FOXM1	chr3:196295059-196295778	GM12878	blood:	n/a	n/a
32	E2F6	chr3:196295140-196295796	H1-hESC	embryonic stem cell:	n/a	chr3:196295393-196295404
33	POLR2A	chr3:196294993-196295896	H1-neurons	neurons:	n/a	n/a
34	PML	chr3:196295034-196295771	K562	blood:	n/a	chr3:196295503-196295511
35	SIN3A	chr3:196294917-196296502	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr3:196295107-196295802	H1-hESC	embryonic stem cell:	n/a	n/a
37	GTF2F1	chr3:196295159-196295669	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr3:196295135-196295760	GM12878	blood:	n/a	chr3:196295552-196295561
39	GABPA	chr3:196294997-196295880	SK-N-SH	brain:	n/a	chr3:196295608-196295617
40	YY1	chr3:196295068-196295943	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr3:196295097-196295752	GM12878	blood:	n/a	n/a
42	MAX	chr3:196295139-196295717	K562	blood:	n/a	chr3:196295552-196295561
43	CTCF	chr3:196295060-196295210	SK-N-SH_RA	brain:	n/a	n/a
44	POLR2A	chr3:196294890-196296373	K562	blood:	n/a	n/a
45	POLR2A	chr3:196295071-196295877	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr3:196295036-196295836	K562	blood:	n/a	n/a
47	SMC3	chr3:196295079-196295636	Hela-S3	cervix:	n/a	chr3:196295300-196295307
48	POLR2A	chr3:196295103-196296381	ProgFib	skin:	n/a	n/a
49	THAP1	chr3:196295134-196296221	K562	blood:	n/a	chr3:196295539-196295563
50	HEY1	chr3:196294533-196295876	K562	blood:	n/a	chr3:196295565-196295580

No.	Distal block	Cell Line	Cell type
1	chr3:196294811..196297703-chr3:196694216..196696736,3	K562	blood:
2	chr3:196292428..196296416-chr3:196668494..196671676,5	MCF-7	breast:
3	chr3:196294271..196297444-chr3:196668008..196671102,3	K562	blood:
4	chr3:196294148..196296034-chr6:26157528..26159567,2	MCF-7	breast:
5	chr3:196228489..196231887-chr3:196292830..196296417,3	MCF-7	breast:
6	chr3:196295017..196295540-chr7:1781548..1782050,2	Hela-S3	cervix:
7	chr17:73775423..73776072-chr3:196295009..196295935,2	Hela-S3	cervix:
8	chr3:196294271..196297444-chr3:196668008..196671102,4	K562	blood:
9	chr3:196294935..196297677-chr3:196667748..196670021,2	MCF-7	breast:
10	chr3:196294586..196296980-chr3:196730003..196731682,2	MCF-7	breast:
11	chr3:196293710..196295856-chr3:196756425..196758030,2	K562	blood:
12	chr3:196293733..196296360-chr3:196359092..196361282,2	MCF-7	breast:
13	chr3:196294356..196296088-chr3:196755433..196757925,2	K562	blood:
14	chr3:196292826..196295435-chr3:196358532..196360090,2	K562	blood:
15	chr3:196228351..196232071-chr3:196294107..196297178,4	MCF-7	breast:

Variant related genes	Relation type
WDR53	TF binding region
FBXO45	TF binding region
ENSG00000163961	Chromatin interaction
ENSG00000232065	Chromatin interaction
ENSG00000270170	Chromatin interaction
ENSG00000119227	Chromatin interaction
ENSG00000158373	Chromatin interaction
ENSG00000236081	Chromatin interaction
ENSG00000114503	Chromatin interaction
ENSG00000132475	Chromatin interaction
ENSG00000163975	Chromatin interaction
ENSG00000228109	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv1003066	chr3:196098763-196414159	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv948681	chr3:196148055-197007546	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1010483	chr3:196210054-196319543	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv536896	chr3:196210054-196319543	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv1014692	chr3:196242249-196531824	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv878187	chr3:196245603-196554790	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv491864	chr3:196263064-196468533	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv829828	chr3:196268121-196463641	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv1010643	chr3:196288064-196788645	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
12	esv3347483	chr3:196294955-196297053	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 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	chr3:196294000-196296400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr3:196294200-196296200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:196294200-196296600	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr3:196294200-196296600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr3:196294200-196296800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr3:196294200-196297000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:196294400-196295200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:196294400-196295200	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr3:196294400-196295200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr3:196294400-196295200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr3:196294400-196295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:196294400-196295200	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr3:196294400-196295200	Flanking Active TSS	Fetal Brain Female	brain
14	chr3:196294400-196295200	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr3:196294400-196295200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr3:196294400-196295400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr3:196294400-196295400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:196294400-196296600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr3:196294400-196296800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:196294400-196296800	Active TSS	Right Ventricle	heart
21	chr3:196294400-196296800	Active TSS	HSMM	muscle
22	chr3:196294400-196297000	Active TSS	H9 Cell Line	embryonic stem cell
23	chr3:196294400-196297000	Active TSS	A549	lung
24	chr3:196294400-196297200	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr3:196294600-196295200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr3:196294600-196295200	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr3:196294600-196295200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr3:196294600-196295200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr3:196294600-196295200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr3:196294600-196295200	Flanking Active TSS	Placenta	Placenta
31	chr3:196294600-196295200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr3:196294600-196295400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr3:196294600-196295400	Flanking Active TSS	Liver	Liver
34	chr3:196294600-196295400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr3:196294600-196296200	Active TSS	HSMMtube	muscle
36	chr3:196294600-196296400	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:196294600-196296400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr3:196294600-196296400	Active TSS	K562	blood
39	chr3:196294600-196296600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:196294600-196296600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:196294600-196296600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr3:196294600-196296800	Active TSS	Small Intestine	intestine
43	chr3:196294600-196297000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:196294800-196295200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr3:196294800-196295200	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr3:196294800-196295200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:196294800-196295200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr3:196294800-196295400	Transcr. at gene 5' and 3'	Fetal Lung	lung
49	chr3:196294800-196295400	Bivalent/Poised TSS	HepG2	liver
50	chr3:196294800-196296000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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