Variant report

Variant	rs4641798
Chromosome Location	chr17:38598892-38598893
allele	A/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	MAFK	chr17:38598668-38598928	HepG2	liver:	n/a	chr17:38598798-38598813
2	MAX	chr17:38598612-38602497	A549	lung:	n/a	chr17:38599856-38599866
3	BCL3	chr17:38598687-38599634	A549	lung:	n/a	chr17:38599413-38599426
4	SIX5	chr17:38598624-38599522	A549	lung:	n/a	n/a
5	CBX3	chr17:38598667-38599361	K562	blood:	n/a	n/a
6	TEAD4	chr17:38598792-38599304	K562	blood:	n/a	n/a
7	E2F6	chr17:38598792-38600332	A549	lung:	n/a	chr17:38599127-38599139 chr17:38599728-38599737
8	NR2F2	chr17:38598816-38599547	MCF-7	breast:	n/a	n/a
9	MAZ	chr17:38598638-38602479	IMR90	lung:	n/a	chr17:38599856-38599866
10	EGR1	chr17:38598880-38599418	MCF-7	breast:	n/a	chr17:38599124-38599134 chr17:38599124-38599134 chr17:38599121-38599136 chr17:38599122-38599135 chr17:38599125-38599135 chr17:38599122-38599135 chr17:38599123-38599134 chr17:38599118-38599140 chr17:38599122-38599135 chr17:38599125-38599134 chr17:38599122-38599136 chr17:38599122-38599135
11	REST	chr17:38598745-38599611	A549	lung:	n/a	chr17:38599288-38599297 chr17:38599043-38599056 chr17:38599270-38599280
12	JUND	chr17:38598790-38599516	K562	blood:	n/a	chr17:38598817-38598828 chr17:38599373-38599382
13	MAFK	chr17:38598713-38598904	HepG2	liver:	n/a	chr17:38598798-38598813
14	EGR1	chr17:38598885-38599332	K562	blood:	n/a	chr17:38599124-38599134 chr17:38599124-38599134 chr17:38599121-38599136 chr17:38599122-38599135 chr17:38599125-38599135 chr17:38599122-38599135 chr17:38599123-38599134 chr17:38599118-38599140 chr17:38599122-38599135 chr17:38599125-38599134 chr17:38599122-38599136 chr17:38599122-38599135
15	CTCF	chr17:38598478-38602583	A549	lung:	n/a	n/a
16	SP1	chr17:38598759-38599889	A549	lung:	n/a	chr17:38599373-38599385 chr17:38599375-38599384 chr17:38599373-38599385 chr17:38599713-38599727 chr17:38599706-38599720 chr17:38599652-38599662 chr17:38599127-38599136 chr17:38599652-38599662
17	MAX	chr17:38598727-38600587	A549	lung:	n/a	chr17:38599856-38599866
18	POLR2A	chr17:38598691-38600986	MCF-7	breast:	n/a	n/a
19	MAFK	chr17:38598717-38599018	K562	blood:	n/a	chr17:38598798-38598813
20	FOSL2	chr17:38598553-38599469	A549	lung:	n/a	chr17:38599373-38599382
21	ELF1	chr17:38598856-38599705	MCF-7	breast:	n/a	chr17:38599313-38599325 chr17:38599125-38599137
22	TCF12	chr17:38598550-38605713	A549	lung:	n/a	chr17:38599080-38599090 chr17:38600404-38600414
23	POLR2A	chr17:38598882-38598969	HUVEC	blood vessel:	n/a	n/a
24	ELF1	chr17:38598858-38599687	GM12878	blood:	n/a	chr17:38599313-38599325 chr17:38599125-38599137
25	ELF1	chr17:38598837-38599576	K562	blood:	n/a	chr17:38599313-38599325 chr17:38599125-38599137
26	POLR2A	chr17:38598819-38600275	K562	blood:	n/a	n/a
27	MAX	chr17:38598879-38600413	MCF-7	breast:	n/a	chr17:38599856-38599866
28	SIN3AK20	chr17:38598738-38599704	MCF-7	breast:	n/a	n/a
29	POLR2A	chr17:38598814-38601155	A549	lung:	n/a	n/a
30	SIN3AK20	chr17:38598822-38599238	A549	lung:	n/a	n/a
31	ETS1	chr17:38598718-38599302	A549	lung:	n/a	n/a
32	MAX	chr17:38598806-38600351	K562	blood:	n/a	chr17:38599856-38599866
33	GATA3	chr17:38598709-38599559	MCF-7	breast:	n/a	chr17:38599116-38599129
34	REST	chr17:38598778-38599910	A549	lung:	n/a	chr17:38599288-38599297 chr17:38599043-38599056 chr17:38599270-38599280
35	UBTF	chr17:38598882-38600538	K562	blood:	n/a	n/a
36	SIN3AK20	chr17:38598700-38599529	A549	lung:	n/a	n/a
37	YY1	chr17:38598779-38599398	A549	lung:	n/a	n/a
38	EGR1	chr17:38598884-38599321	K562	blood:	n/a	chr17:38599124-38599134 chr17:38599124-38599134 chr17:38599121-38599136 chr17:38599122-38599135 chr17:38599125-38599135 chr17:38599122-38599135 chr17:38599123-38599134 chr17:38599118-38599140 chr17:38599122-38599135 chr17:38599125-38599134 chr17:38599122-38599136 chr17:38599122-38599135
39	MAFK	chr17:38598638-38599002	IMR90	lung:	n/a	chr17:38598798-38598813
40	POLR2A	chr17:38598854-38599033	A549	lung:	n/a	n/a
41	MXI1	chr17:38598661-38602568	IMR90	lung:	n/a	n/a
42	SP1	chr17:38598655-38599898	A549	lung:	n/a	chr17:38599373-38599385 chr17:38599375-38599384 chr17:38599373-38599385 chr17:38599713-38599727 chr17:38599706-38599720 chr17:38599652-38599662 chr17:38599127-38599136 chr17:38599652-38599662
43	UBTF	chr17:38598833-38600297	K562	blood:	n/a	n/a
44	CHD1	chr17:38598788-38602578	IMR90	lung:	n/a	chr17:38599853-38599863 chr17:38599682-38599692

No.	Distal block	Cell Line	Cell type
1	chr17:38461615..38484404-chr17:38597525..38608992,85	MCF-7	breast:
2	chr17:38597471..38599668-chr17:38689776..38691457,2	K562	blood:
3	chr17:38571221..38576195-chr17:38597437..38603899,8	K562	blood:
4	chr17:38598881..38602329-chr17:38713858..38720847,8	MCF-7	breast:
5	chr17:38518063..38521220-chr17:38597683..38601473,5	MCF-7	breast:
6	chr17:38597908..38601053-chr17:38654458..38659532,5	MCF-7	breast:
7	chr17:38336165..38338939-chr17:38598006..38600043,2	MCF-7	breast:
8	chr17:38598261..38600683-chr9:136220142..136221734,2	MCF-7	breast:
9	chr17:38456433..38460322-chr17:38596356..38599161,3	MCF-7	breast:
10	chr17:38572047..38583621-chr17:38597341..38605150,24	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240125	TF binding region
IGFBP4	TF binding region
ENSG00000108352	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000126353	Chromatin interaction
ENSG00000183153	Chromatin interaction
ENSG00000148290	Chromatin interaction
ENSG00000131746	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv908223	chr17:38530799-38609187	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3442525	chr17:38598451-38601299	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
4	esv3384974	chr17:38598726-38601149	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38584600-38600200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr17:38590200-38599000	Weak transcription	Lung	lung
3	chr17:38594000-38599000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr17:38594200-38599000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:38594200-38599000	Weak transcription	HSMM	muscle
6	chr17:38597600-38599000	Enhancers	Fetal Stomach	stomach
7	chr17:38597600-38599000	Weak transcription	HSMMtube	muscle
8	chr17:38597800-38599000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr17:38597800-38599000	Weak transcription	Primary B cells from cord blood	blood
10	chr17:38597800-38599000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:38597800-38599000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr17:38597800-38599000	Weak transcription	Stomach Mucosa	stomach
13	chr17:38598000-38599000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr17:38598400-38599000	Enhancers	Liver	Liver
15	chr17:38598600-38599000	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:38598600-38599000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr17:38598600-38599000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr17:38598600-38599000	Enhancers	Placenta	Placenta
19	chr17:38598600-38599000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr17:38598600-38599000	Enhancers	HUVEC	blood vessel
21	chr17:38598600-38599000	Enhancers	NHDF-Ad	bronchial
22	chr17:38598600-38599200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:38598600-38599200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr17:38598600-38599200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr17:38598600-38599200	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr17:38598600-38599400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr17:38598600-38599400	Flanking Active TSS	A549	lung
28	chr17:38598800-38599000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr17:38598800-38599000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr17:38598800-38599000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr17:38598800-38599000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr17:38598800-38599000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr17:38598800-38599000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr17:38598800-38599000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:38598800-38599000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr17:38598800-38599000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:38598800-38599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:38598800-38599000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:38598800-38599000	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr17:38598800-38599000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:38598800-38599000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr17:38598800-38599000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr17:38598800-38599000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr17:38598800-38599000	Enhancers	Brain Substantia Nigra	brain
45	chr17:38598800-38599000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr17:38598800-38599000	Enhancers	Esophagus	oesophagus
47	chr17:38598800-38599000	Enhancers	Fetal Brain Female	brain
48	chr17:38598800-38599000	Flanking Active TSS	Fetal Heart	heart
49	chr17:38598800-38599000	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr17:38598800-38599000	Enhancers	Fetal Intestine Small	intestine

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