Variant report

Variant	rs35527921
Chromosome Location	chr17:37861056-37861057
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:37860979-37861327	HepG2	liver:	n/a	n/a
2	EP300	chr17:37860942-37861490	T-47D	breast:	n/a	n/a
3	TEAD4	chr17:37860993-37861619	H1-hESC	embryonic stem cell:	n/a	n/a
4	GATA3	chr17:37860823-37861466	T-47D	breast:	n/a	n/a
5	POLR2A	chr17:37861011-37861529	H1-hESC	embryonic stem cell:	n/a	n/a
6	FOXA1	chr17:37860840-37861392	T-47D	breast:	n/a	n/a
7	GATA3	chr17:37860859-37861381	T-47D	breast:	n/a	n/a
8	CTCF	chr17:37860960-37861110	NHEK	skin:	n/a	n/a
9	CTCF	chr17:37861028-37861411	IMR90	lung:	n/a	n/a
10	TEAD4	chr17:37860931-37861462	HepG2	liver:	n/a	n/a
11	EP300	chr17:37860884-37861456	T-47D	breast:	n/a	n/a
12	CTCF	chr17:37860940-37861090	RPTEC	kidney:	n/a	n/a
13	TEAD4	chr17:37861050-37861576	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:37861024-37861477	H1-hESC	embryonic stem cell:	n/a	n/a
15	FOXA1	chr17:37860833-37861431	T-47D	breast:	n/a	n/a
16	MAZ	chr17:37860904-37861458	IMR90	lung:	n/a	n/a
17	TEAD4	chr17:37860978-37861508	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37861008..37863729-chr17:37884662..37888113,4	MCF-7	breast:
2	chr17:37859950..37863403-chr17:37895808..37898808,3	MCF-7	breast:
3	chr17:37860742..37863626-chr17:37884816..37888176,3	MCF-7	breast:
4	chr17:37860215..37862693-chr17:37863560..37866176,3	K562	blood:
5	chr17:37855173..37857494-chr17:37859476..37862807,3	K562	blood:
6	chr17:37854371..37858847-chr17:37859204..37863861,12	MCF-7	breast:
7	chr17:37860257..37864274-chr17:37871854..37875164,5	MCF-7	breast:
8	chr17:37842383..37849519-chr17:37854521..37862509,17	MCF-7	breast:
9	chr17:37860636..37865251-chr17:37890921..37895460,5	MCF-7	breast:

No data

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12936456	1.00[AMR][1000 genomes]
rs12943460	1.00[AMR][1000 genomes]
rs12950412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12951747	1.00[AFR][1000 genomes]
rs34715089	0.80[AFR][1000 genomes]
rs35938081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs66788250	0.80[AFR][1000 genomes]
rs71369787	0.89[AFR][1000 genomes];1.00[AMR][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:94 , 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	chr17:37857800-37863200	Enhancers	Left Ventricle	heart
5	chr17:37858000-37862200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr17:37858000-37862400	Genic enhancers	Fetal Stomach	stomach
7	chr17:37858000-37862800	Genic enhancers	Fetal Intestine Large	intestine
8	chr17:37858000-37863200	Weak transcription	HUVEC	blood vessel
9	chr17:37858000-37885200	Weak transcription	Fetal Brain Male	brain
10	chr17:37858000-37885600	Weak transcription	Hela-S3	cervix
11	chr17:37858200-37861200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr17:37858200-37861200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:37858200-37861200	Enhancers	Colonic Mucosa	Colon
14	chr17:37858200-37861200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr17:37858200-37861800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr17:37858200-37862200	Enhancers	Lung	lung
17	chr17:37858200-37862400	Enhancers	Fetal Lung	lung
18	chr17:37858200-37862400	Enhancers	Gastric	stomach
19	chr17:37858200-37862400	Enhancers	Pancreas	Pancrea
20	chr17:37858200-37863200	Weak transcription	Spleen	Spleen
21	chr17:37858200-37863200	Weak transcription	NHLF	lung
22	chr17:37858200-37863600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:37858200-37864000	Enhancers	Liver	Liver
24	chr17:37858200-37864400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:37858200-37882600	Weak transcription	NHDF-Ad	bronchial
26	chr17:37858400-37861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:37858400-37861200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:37858400-37861200	Enhancers	Esophagus	oesophagus
29	chr17:37858400-37861400	Enhancers	H9 Cell Line	embryonic stem cell
30	chr17:37858400-37862400	Enhancers	Duodenum Mucosa	Duodenum
31	chr17:37858400-37863000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:37858400-37863400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr17:37858400-37863400	Weak transcription	Fetal Kidney	kidney
34	chr17:37858400-37863600	Genic enhancers	Fetal Intestine Small	intestine
35	chr17:37858400-37879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:37858600-37861400	Weak transcription	Small Intestine	intestine
37	chr17:37858600-37861800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr17:37858600-37861800	Weak transcription	HSMM	muscle
39	chr17:37858800-37862200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr17:37858800-37862800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr17:37859000-37861200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr17:37859000-37861200	Enhancers	GM12878-XiMat	blood
43	chr17:37859000-37862000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr17:37859000-37863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr17:37859000-37864000	Genic enhancers	Fetal Muscle Leg	muscle
46	chr17:37859200-37861200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr17:37859200-37862200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr17:37859200-37863000	Enhancers	Right Ventricle	heart
49	chr17:37859400-37881000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr17:37859600-37861800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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