Variant report

Variant	rs4252600
Chromosome Location	chr17:37856982-37856983
allele	C/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	SMARCB1	chr17:37856077-37857060	Hela-S3	cervix:	n/a	n/a
2	ZNF263	chr17:37855884-37857063	HEK293-T-REx	kidney:	n/a	chr17:37856250-37856271
3	ZBTB7A	chr17:37855890-37857461	ECC-1	luminal epithelium:	n/a	chr17:37856366-37856373 chr17:37856211-37856220
4	MAZ	chr17:37855606-37857405	IMR90	lung:	n/a	n/a
5	POLR2A	chr17:37856943-37857150	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZBTB7A	chr17:37856809-37857214	HepG2	liver:	n/a	n/a
7	POLR2A	chr17:37855960-37857150	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3A	chr17:37856002-37857168	H1-hESC	embryonic stem cell:	n/a	chr17:37856351-37856364
9	MAZ	chr17:37855989-37857358	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:37855927-37857151	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr17:37855727-37857035	A549	lung:	n/a	n/a
12	ZBTB7A	chr17:37855943-37857322	ECC-1	luminal epithelium:	n/a	chr17:37856366-37856373 chr17:37856211-37856220
13	MXI1	chr17:37855592-37857268	IMR90	lung:	n/a	n/a
14	YY1	chr17:37855981-37857368	HepG2	liver:	n/a	chr17:37857180-37857191 chr17:37856992-37857003 chr17:37856635-37856646 chr17:37857179-37857188 chr17:37856635-37856649
15	SIN3AK20	chr17:37856537-37857252	H1-hESC	embryonic stem cell:	n/a	n/a
16	TCF12	chr17:37855672-37857291	A549	lung:	n/a	chr17:37856214-37856224
17	HDAC2	chr17:37856813-37857290	HepG2	liver:	n/a	chr17:37856880-37856889 chr17:37856882-37856891
18	TAF1	chr17:37855982-37857034	ECC-1	luminal epithelium:	n/a	n/a
19	POLR2A	chr17:37856850-37857516	HepG2	liver:	n/a	n/a
20	CEBPD	chr17:37856901-37857262	HepG2	liver:	n/a	n/a
21	HEY1	chr17:37856916-37857151	HepG2	liver:	n/a	n/a
22	CEBPB	chr17:37856981-37857087	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr17:37856838-37857181	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:75073924..75075938-chr17:37855960..37858891,2	MCF-7	breast:
2	chr17:37855322..37860162-chr17:37882817..37887032,7	MCF-7	breast:
3	chr17:37854371..37858847-chr17:37859204..37863861,12	MCF-7	breast:
4	chr17:37856670..37858872-chr17:37874487..37877508,3	MCF-7	breast:
5	chr17:37855582..37857499-chr17:37893190..37897262,3	MCF-7	breast:
6	chr17:37842383..37849519-chr17:37854521..37862509,17	MCF-7	breast:
7	chr17:37855311..37858072-chr17:37885359..37888218,2	K562	blood:
8	chr17:37855304..37857844-chr17:37885421..37887410,2	MCF-7	breast:
9	chr17:37854757..37859429-chr17:37870382..37874180,6	K562	blood:

Variant related genes	Relation type
ERBB2	TF binding region
PGAP3	TF binding region
ENSG00000103653	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000141736	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4252613	0.93[AFR][1000 genomes]
rs4252626	0.87[AFR][1000 genomes]
rs4252632	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4252643	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37845800-37858000	Weak transcription	K562	blood
2	chr17:37855400-37857400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr17:37855600-37857200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:37855600-37857800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr17:37855600-37857800	Active TSS	Rectal Smooth Muscle	rectum
6	chr17:37855600-37858400	Active TSS	Fetal Kidney	kidney
7	chr17:37855800-37857000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:37855800-37857200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr17:37855800-37857200	Active TSS	NH-A	brain
10	chr17:37855800-37857400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr17:37855800-37857400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr17:37855800-37857400	Bivalent/Poised TSS	Adipose Nuclei	Adipose
13	chr17:37855800-37857400	Active TSS	Fetal Lung	lung
14	chr17:37855800-37857400	Active TSS	Left Ventricle	heart
15	chr17:37855800-37857400	Active TSS	Ovary	ovary
16	chr17:37855800-37857400	Active TSS	Psoas Muscle	Psoas
17	chr17:37855800-37857400	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr17:37855800-37857400	Active TSS	HSMM	muscle
19	chr17:37855800-37857400	Active TSS	NHLF	lung
20	chr17:37855800-37857400	Active TSS	Osteobl	bone
21	chr17:37855800-37857600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr17:37855800-37857600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr17:37855800-37857600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr17:37855800-37857600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:37855800-37857600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
26	chr17:37855800-37857600	Active TSS	Duodenum Mucosa	Duodenum
27	chr17:37855800-37857600	Active TSS	Right Atrium	heart
28	chr17:37855800-37857600	Active TSS	Right Ventricle	heart
29	chr17:37855800-37857800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr17:37855800-37857800	Active TSS	Aorta	Aorta
31	chr17:37855800-37858000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr17:37856000-37857000	Bivalent Enhancer	Primary B cells from cord blood	blood
33	chr17:37856000-37857000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
34	chr17:37856000-37857000	Bivalent/Poised TSS	Thymus	Thymus
35	chr17:37856000-37857200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr17:37856000-37857200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr17:37856000-37857200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr17:37856000-37857200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr17:37856000-37857200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:37856000-37857200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr17:37856000-37857200	Bivalent Enhancer	Fetal Brain Male	brain
42	chr17:37856000-37857200	Active TSS	Lung	lung
43	chr17:37856000-37857200	Active TSS	NHDF-Ad	bronchial
44	chr17:37856000-37857400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr17:37856000-37857400	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr17:37856000-37857400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:37856000-37857400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:37856000-37857400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr17:37856000-37857400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr17:37856000-37857400	Bivalent/Poised TSS	Fetal Stomach	stomach

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