Variant report

Variant	rs557176421
Chromosome Location	chr4:79698396-79698397
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	SIN3AK20	chr4:79697824-79698648	K562	blood:	n/a	n/a
2	MXI1	chr4:79695648-79698681	IMR90	lung:	n/a	n/a
3	TBL1XR1	chr4:79698047-79698550	GM12878	blood:	n/a	n/a
4	TFAP2C	chr4:79697932-79698514	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr4:79697802-79698458	U87	brain:	n/a	n/a
6	POLR2A	chr4:79695712-79698833	K562	blood:	n/a	n/a
7	TAF1	chr4:79697869-79698441	K562	blood:	n/a	n/a
8	TCF7L2	chr4:79698136-79698939	HEK293	kidney:	n/a	chr4:79698178-79698187
9	MYC	chr4:79695591-79698574	K562	blood:	n/a	chr4:79697385-79697395 chr4:79698179-79698188
10	TBP	chr4:79698022-79698401	Hela-S3	cervix:	n/a	n/a
11	WRNIP1	chr4:79698133-79698566	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:79695600-79704800	PBDE	blood:	n/a	n/a
13	ZBTB7A	chr4:79697773-79698472	ECC-1	luminal epithelium:	n/a	n/a
14	JUND	chr4:79698001-79698433	K562	blood:	n/a	chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698178-79698188 chr4:79698177-79698188 chr4:79698178-79698187
15	POLR2A	chr4:79696044-79699275	MCF10A-Er-Src	breast:	n/a	n/a
16	CTCF	chr4:79698340-79698490	HCM	heart:	n/a	n/a
17	TCF7L2	chr4:79698033-79698482	HCT-116	colon:	n/a	chr4:79698178-79698187
18	CTCF	chr4:79698320-79698470	RPTEC	kidney:	n/a	n/a
19	POLR2A	chr4:79696396-79698547	HUVEC	blood vessel:	n/a	n/a
20	MXI1	chr4:79698057-79698396	GM12878	blood:	n/a	n/a
21	MXI1	chr4:79698080-79698565	K562	blood:	n/a	n/a
22	MYC	chr4:79698052-79698435	NB4	blood:	n/a	chr4:79698179-79698188
23	RAD21	chr4:79698022-79698506	Hela-S3	cervix:	n/a	n/a
24	SMC3	chr4:79697934-79698454	GM12878	blood:	n/a	n/a
25	ZKSCAN1	chr4:79698081-79698419	Hela-S3	cervix:	n/a	n/a
26	UBTF	chr4:79696176-79698607	K562	blood:	n/a	n/a
27	CHD2	chr4:79698071-79698508	GM12878	blood:	n/a	n/a
28	POLR2A	chr4:79696170-79698447	GM18526	blood:	n/a	n/a
29	POLR2A	chr4:79695814-79698408	GM18505	blood:	n/a	n/a
30	IRF1	chr4:79698043-79700891	K562	blood:	n/a	chr4:79699678-79699685 chr4:79698149-79698158 chr4:79699001-79699011 chr4:79698997-79699011 chr4:79699699-79699716
31	MXI1	chr4:79697965-79698491	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:79697782-79698496	HL-60	blood:	n/a	n/a
33	POLR2A	chr4:79697824-79698450	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr4:79698112-79698432	H1-hESC	embryonic stem cell:	n/a	n/a
35	ARID3A	chr4:79698079-79698400	HepG2	liver:	n/a	n/a
36	MAFK	chr4:79698327-79698445	K562	blood:	n/a	n/a
37	MAZ	chr4:79698115-79698494	GM12878	blood:	n/a	chr4:79698179-79698188
38	CHD2	chr4:79698005-79698458	Hela-S3	cervix:	n/a	n/a
39	MAX	chr4:79697965-79698491	Hela-S3	cervix:	n/a	chr4:79698179-79698188
40	RCOR1	chr4:79697957-79698404	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr4:79698280-79698430	GM12867	blood:	n/a	n/a
42	POLR2A	chr4:79696076-79698466	Hela-S3	cervix:	n/a	n/a
43	MAX	chr4:79698038-79698456	SK-N-SH	brain:	n/a	chr4:79698179-79698188
44	POLR2A	chr4:79695518-79698666	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:79696114-79698413	K562	blood:	n/a	n/a
46	TBP	chr4:79698159-79698437	HepG2	liver:	n/a	n/a
47	POLR2A	chr4:79695634-79698859	K562	blood:	n/a	n/a
48	MTA3	chr4:79697958-79698612	GM12878	blood:	n/a	n/a
49	PML	chr4:79697939-79698575	K562	blood:	n/a	chr4:79698026-79698034 chr4:79698180-79698189
50	MYC	chr4:79698063-79698469	MCF10A-Er-Src	breast:	n/a	chr4:79698179-79698188

No.	Distal block	Cell Line	Cell type
1	chr4:79522193..79524527-chr4:79697309..79699707,2	MCF-7	breast:
2	chr4:79564080..79567985-chr4:79696414..79698633,7	MCF-7	breast:
3	chr4:79591975..79594296-chr4:79697576..79699186,2	K562	blood:
4	chr4:79522884..79525832-chr4:79695803..79698616,2	K562	blood:
5	chr4:79570295..79572982-chr4:79695014..79699413,6	MCF-7	breast:
6	chr4:79562196..79569044-chr4:79695847..79699797,11	MCF-7	breast:
7	chr4:79697257..79699576-chr4:79770892..79773352,2	MCF-7	breast:
8	chr4:79686100..79693924-chr4:79694940..79698947,11	MCF-7	breast:
9	chr4:79568346..79573757-chr4:79695931..79699478,7	MCF-7	breast:
10	chr4:79697991..79698551-chr4:79785291..79786155,2	MCF-7	breast:
11	chr4:79563120..79566472-chr4:79698388..79700680,4	K562	blood:
12	chr4:79557978..79560128-chr4:79697718..79699238,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260278	TF binding region
ENSG00000251019	Chromatin interaction
ENSG00000138756	Chromatin interaction
ENSG00000239793	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000138772	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803379	chr4:79661618-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv1792021	chr4:79661618-79784245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
3	esv3358831	chr4:79696153-79699301	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3368249	chr4:79696578-79699076	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1792429	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1798320	chr4:79697116-79704210	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1801852	chr4:79697116-79704210	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1802642	chr4:79697116-79704210	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	esv1802703	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv1833723	chr4:79697116-79704210	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv1833992	chr4:79697116-79704210	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	esv1835474	chr4:79697116-79704210	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv1837381	chr4:79697116-79704210	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	esv1845915	chr4:79697116-79704210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr4:79695800-79698800	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr4:79696000-79698400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:79696000-79698800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:79696000-79699000	Active TSS	Hela-S3	cervix
5	chr4:79696000-79699600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:79696000-79699800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:79696200-79698400	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr4:79696200-79698400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr4:79696200-79698600	Active TSS	Ovary	ovary
10	chr4:79696200-79698800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:79696200-79698800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:79696200-79698800	Active TSS	Aorta	Aorta
14	chr4:79696200-79698800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:79696200-79698800	Active TSS	A549	lung
16	chr4:79696200-79699000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr4:79696200-79699200	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr4:79696200-79699200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr4:79696200-79699200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:79696200-79699200	Active TSS	Fetal Kidney	kidney
21	chr4:79696200-79699200	Active TSS	Fetal Muscle Trunk	muscle
22	chr4:79696200-79699200	Active TSS	Fetal Stomach	stomach
23	chr4:79696200-79699200	Active TSS	Psoas Muscle	Psoas
24	chr4:79696200-79699600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:79696200-79699600	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:79696200-79699600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:79696200-79699800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:79696200-79699800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr4:79696200-79699800	Active TSS	Thymus	Thymus
30	chr4:79696200-79699800	Active TSS	NHDF-Ad	bronchial
31	chr4:79696200-79700200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:79696200-79700800	Active TSS	Rectal Smooth Muscle	rectum
33	chr4:79696400-79698400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:79696400-79698400	Active TSS	Colon Smooth Muscle	Colon
35	chr4:79696400-79698400	Active TSS	Fetal Lung	lung
36	chr4:79696400-79698600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:79696400-79698600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:79696400-79698600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:79696400-79698600	Active TSS	Esophagus	oesophagus
40	chr4:79696400-79698600	Active TSS	Gastric	stomach
41	chr4:79696400-79698600	Active TSS	Left Ventricle	heart
42	chr4:79696400-79698600	Active TSS	Lung	lung
43	chr4:79696400-79698600	Active TSS	Pancreas	Pancrea
44	chr4:79696400-79698600	Active TSS	Small Intestine	intestine
45	chr4:79696400-79698800	Bivalent/Poised TSS	HepG2	liver
46	chr4:79696400-79698800	Active TSS	HSMM	muscle
47	chr4:79696400-79699200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:79696400-79699200	Active TSS	Right Ventricle	heart
49	chr4:79696400-79699400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:79696400-79699400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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