Variant report

Variant	rs35140643
Chromosome Location	chr5:179962002-179962003
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	POLR2A	chr5:179961574-179962077	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:179961563-179962149	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:179961532-179962136	GM12892	blood:	n/a	n/a
4	POLR2A	chr5:179961594-179962072	GM12878	blood:	n/a	n/a
5	SRF	chr5:179961617-179962068	GM12878	blood:	n/a	n/a
6	POU2F2	chr5:179961523-179962148	GM12878	blood:	n/a	n/a
7	HEY1	chr5:179961592-179962046	HepG2	liver:	n/a	n/a
8	POLR2A	chr5:179961592-179962165	GM12891	blood:	n/a	n/a
9	POLR2A	chr5:179961525-179962156	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr5:179961626-179962068	A549	lung:	n/a	n/a
11	USF1	chr5:179961562-179962082	GM12878	blood:	n/a	n/a
12	PAX5	chr5:179961552-179962132	GM12878	blood:	n/a	n/a
13	POLR2A	chr5:179961595-179962089	Hela-S3	cervix:	n/a	n/a
14	REST	chr5:179961623-179962066	U87	brain:	n/a	n/a
15	POLR2A	chr5:179961609-179962089	GM12878	blood:	n/a	n/a
16	TCF3	chr5:179961494-179962137	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250749	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	esv1810959	chr5:179945112-179997861	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	esv998085	chr5:179961835-179962079	Strong transcription Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
13	esv1787252	chr5:179961973-179962071	Strong transcription Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179950200-179975200	Weak transcription	Psoas Muscle	Psoas
2	chr5:179950200-179984400	Weak transcription	NHDF-Ad	bronchial
3	chr5:179950200-179992000	Weak transcription	Right Ventricle	heart
4	chr5:179950400-179992400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:179950600-180004000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:179951000-179991800	Weak transcription	Small Intestine	intestine
7	chr5:179951600-179967000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:179952400-179969000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:179952800-179967200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:179952800-179975400	Weak transcription	Stomach Mucosa	stomach
11	chr5:179953400-179975200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:179953600-179977000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr5:179953800-179975400	Weak transcription	Fetal Heart	heart
14	chr5:179954000-179962600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:179954000-179964400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:179954600-179964200	Strong transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:179955600-179962800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr5:179955600-179977600	Weak transcription	Colonic Mucosa	Colon
19	chr5:179956200-179962800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:179956200-179963800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:179956200-179964400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:179956200-179964800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:179956400-179962800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:179956600-179962400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:179956600-179964400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr5:179956600-179964400	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:179956800-179964600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:179957000-179962200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:179957000-179962400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:179957400-179964200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:179957400-179976800	Weak transcription	Osteobl	bone
32	chr5:179957600-179964200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:179957600-179965800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:179957600-179967200	Weak transcription	A549	lung
35	chr5:179957600-179967200	Weak transcription	NH-A	brain
36	chr5:179958200-179962200	Strong transcription	Fetal Stomach	stomach
37	chr5:179958200-179971000	Weak transcription	HUVEC	blood vessel
38	chr5:179958400-179964200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:179958600-179962600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr5:179958600-179964000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:179958600-179964400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:179958800-179962800	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:179958800-179964400	Strong transcription	Thymus	Thymus
44	chr5:179958800-179964600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:179959000-179962200	Strong transcription	Fetal Intestine Small	intestine
46	chr5:179959000-179962400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:179959000-179962600	Strong transcription	Primary T cells from cord blood	blood
48	chr5:179959000-179962600	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr5:179959000-179962800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr5:179959000-179962800	Strong transcription	Primary hematopoietic stem cells	blood

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