Variant report

Variant	rs34284966
Chromosome Location	chr17:37859083-37859084
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	EP300	chr17:37858867-37860145	T-47D	breast:	n/a	chr17:37859701-37859714
2	MBD4	chr17:37858941-37860018	HepG2	liver:	n/a	n/a
3	SP1	chr17:37858888-37860157	A549	lung:	n/a	chr17:37859587-37859601 chr17:37859523-37859532
4	SP1	chr17:37859034-37860010	HepG2	liver:	n/a	chr17:37859587-37859601 chr17:37859523-37859532
5	HEY1	chr17:37858954-37859964	HepG2	liver:	n/a	n/a
6	MYC	chr17:37859036-37859191	MCF10A-Er-Src	breast:	n/a	n/a
7	NFIC	chr17:37859043-37860090	HepG2	liver:	n/a	n/a
8	MAZ	chr17:37859063-37859902	HepG2	liver:	n/a	n/a
9	MYBL2	chr17:37859002-37860247	HepG2	liver:	n/a	n/a
10	HDAC2	chr17:37859082-37859781	HepG2	liver:	n/a	chr17:37859374-37859388
11	MYBL2	chr17:37858955-37860145	HepG2	liver:	n/a	n/a
12	CEBPB	chr17:37859045-37860053	HepG2	liver:	n/a	n/a
13	CREB1	chr17:37859015-37860316	HepG2	liver:	n/a	n/a
14	FOXA1	chr17:37859077-37860107	HepG2	liver:	n/a	chr17:37859764-37859779
15	FOXA1	chr17:37859037-37859393	T-47D	breast:	n/a	n/a
16	TCF12	chr17:37858807-37860421	A549	lung:	n/a	chr17:37859769-37859778 chr17:37860180-37860190 chr17:37860030-37860037 chr17:37859750-37859759
17	MAX	chr17:37859027-37860116	HepG2	liver:	n/a	n/a
18	RXRA	chr17:37859052-37860124	HepG2	liver:	n/a	chr17:37859271-37859287 chr17:37859430-37859452 chr17:37860104-37860124
19	SP1	chr17:37858870-37860282	A549	lung:	n/a	chr17:37859587-37859601 chr17:37859523-37859532
20	HDAC2	chr17:37858998-37859728	HepG2	liver:	n/a	chr17:37859374-37859388
21	SMC3	chr17:37858970-37860006	HepG2	liver:	n/a	n/a
22	MAX	chr17:37858966-37860256	A549	lung:	n/a	n/a
23	GATA3	chr17:37859000-37859371	T-47D	breast:	n/a	chr17:37859355-37859365
24	FOXA2	chr17:37859045-37860236	A549	lung:	n/a	n/a
25	POLR2A	chr17:37859042-37859539	HepG2	liver:	n/a	n/a
26	HEY1	chr17:37859042-37859401	HepG2	liver:	n/a	n/a
27	EP300	chr17:37858868-37860184	A549	lung:	n/a	chr17:37859701-37859714

No.	Distal block	Cell Line	Cell type
1	chr17:37857587..37859088-chr17:37859353..37860881,2	K562	blood:
2	chr17:37858020..37860192-chr17:37861876..37864299,2	K562	blood:
3	chr17:37855322..37860162-chr17:37882817..37887032,7	MCF-7	breast:
4	chr17:37858097..37860300-chr17:37892319..37894495,2	MCF-7	breast:
5	chr17:37842403..37845935-chr17:37858030..37860407,3	K562	blood:
6	chr17:37842383..37849519-chr17:37854521..37862509,17	MCF-7	breast:
7	chr17:37854757..37859429-chr17:37870382..37874180,6	K562	blood:

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4252608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4252624	0.84[EUR][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37857000-37872000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:37857600-37861200	Weak transcription	Brain Anterior Caudate	brain
3	chr17:37857600-37863400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr17:37857800-37861000	Weak transcription	Colon Smooth Muscle	Colon
5	chr17:37857800-37863200	Enhancers	Left Ventricle	heart
6	chr17:37858000-37859400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:37858000-37860800	Weak transcription	Aorta	Aorta
8	chr17:37858000-37861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:37858000-37861000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:37858000-37861000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:37858000-37861000	Weak transcription	HMEC	breast
12	chr17:37858000-37862200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:37858000-37862400	Genic enhancers	Fetal Stomach	stomach
14	chr17:37858000-37862800	Genic enhancers	Fetal Intestine Large	intestine
15	chr17:37858000-37863200	Weak transcription	HUVEC	blood vessel
16	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
17	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
18	chr17:37858200-37859200	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
19	chr17:37858200-37859200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr17:37858200-37859200	Weak transcription	Right Ventricle	heart
21	chr17:37858200-37859800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:37858200-37860000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
23	chr17:37858200-37860200	Flanking Active TSS	HepG2	liver
24	chr17:37858200-37860800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr17:37858200-37860800	Weak transcription	Osteobl	bone
26	chr17:37858200-37861000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr17:37858200-37861000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr17:37858200-37861000	Weak transcription	Ovary	ovary
29	chr17:37858200-37861000	Weak transcription	NH-A	brain
30	chr17:37858200-37861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:37858200-37861200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr17:37858200-37861200	Enhancers	Colonic Mucosa	Colon
33	chr17:37858200-37861200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr17:37858200-37861800	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr17:37858200-37862200	Enhancers	Lung	lung
36	chr17:37858200-37862400	Enhancers	Fetal Lung	lung
37	chr17:37858200-37862400	Enhancers	Gastric	stomach
38	chr17:37858200-37862400	Enhancers	Pancreas	Pancrea
39	chr17:37858200-37863200	Weak transcription	Spleen	Spleen
40	chr17:37858200-37863200	Weak transcription	NHLF	lung
41	chr17:37858200-37863600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:37858200-37864000	Enhancers	Liver	Liver
43	chr17:37858200-37864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
45	chr17:37858400-37859200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:37858400-37859200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr17:37858400-37859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:37858400-37859200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr17:37858400-37859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr17:37858400-37859400	Weak transcription	Right Atrium	heart

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