Variant report

Variant	rs72999501
Chromosome Location	chr19:18282335-18282336
allele	C/T
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:7)
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	TBP	chr19:18281573-18282899	GM12878	blood:	n/a	n/a
2	POLR2A	chr19:18281250-18285709	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:18282274-18283383	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr19:18282289-18282932	K562	blood:	n/a	n/a
5	POLR2A	chr19:18282311-18283152	GM12892	blood:	n/a	n/a
6	EBF1	chr19:18281300-18282805	GM12878	blood:	n/a	chr19:18281867-18281878
7	POLR2A	chr19:18282228-18283191	K562	blood:	n/a	n/a
8	POLR2A	chr19:18279373-18286732	GM12878	blood:	n/a	n/a
9	MAX	chr19:18282332-18283181	K562	blood:	n/a	n/a
10	ESRRA	chr19:18278731-18286097	GM12878	blood:	n/a	chr19:18279118-18279137 chr19:18282624-18282637 chr19:18283844-18283858
11	POLR2A	chr19:18281377-18282897	GM12878	blood:	n/a	n/a
12	MTA3	chr19:18282302-18283231	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:18281367-18283241	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:18282306-18282927	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:18282298-18283468	SK-N-MC	brain:	n/a	n/a
16	CBX3	chr19:18282324-18283192	K562	blood:	n/a	n/a
17	POLR2A	chr19:18282326-18283869	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18234040..18236524-chr19:18282001..18284422,2	K562	blood:
2	chr19:18270841..18274089-chr19:18281381..18284533,5	MCF-7	breast:
3	chr19:18270258..18275351-chr19:18277257..18287386,21	K562	blood:
4	chr19:18278323..18281380-chr19:18281484..18284654,3	MCF-7	breast:
5	chr19:18270372..18276469-chr19:18282239..18286487,12	K562	blood:
6	chr19:18260584..18267400-chr19:18276077..18285960,14	MCF-7	breast:
7	chr19:18277547..18280046-chr19:18281617..18284436,4	K562	blood:

No data

Variant related genes	Relation type
IFI30	TF binding region
ENSG00000099308	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000268173	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1045747	0.89[AFR][1000 genomes]
rs2241090	0.96[AFR][1000 genomes]
rs273265	0.86[AFR][1000 genomes]
rs273266	0.88[AFR][1000 genomes]
rs2921	0.89[AFR][1000 genomes]
rs4808118	0.89[AFR][1000 genomes]
rs4808758	0.84[AFR][1000 genomes]
rs6512247	0.93[AFR][1000 genomes]
rs7248971	0.83[AFR][1000 genomes]
rs7259445	0.98[AFR][1000 genomes]
rs73001407	0.96[AFR][1000 genomes]
rs887945	0.98[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911243	chr19:18206681-18283501	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	37 gene(s)	inside rSNPs	diseases
11	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
13	nsv911246	chr19:18224729-18283501	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
14	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
17	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
20	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
21	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
22	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
23	nsv911255	chr19:18254876-18282586	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
24	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
25	nsv911257	chr19:18258598-18282586	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
26	nsv911258	chr19:18262371-18282586	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
27	nsv911259	chr19:18264940-18283501	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18265000-18284200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:18272600-18282600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:18272800-18282600	Strong transcription	Fetal Brain Female	brain
4	chr19:18272800-18282800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr19:18272800-18282800	Strong transcription	H9 Cell Line	embryonic stem cell
6	chr19:18272800-18282800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:18272800-18284200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr19:18272800-18284200	Weak transcription	Right Atrium	heart
9	chr19:18272800-18284200	Weak transcription	Stomach Mucosa	stomach
10	chr19:18272800-18284600	Weak transcription	Small Intestine	intestine
11	chr19:18273000-18282400	Weak transcription	Fetal Heart	heart
12	chr19:18273000-18282600	Strong transcription	Fetal Intestine Large	intestine
13	chr19:18273000-18282800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:18273000-18283000	Strong transcription	Fetal Muscle Leg	muscle
15	chr19:18273000-18283800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr19:18274200-18282800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr19:18274400-18284000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:18277000-18284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr19:18277000-18284200	Weak transcription	NH-A	brain
20	chr19:18277000-18284400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:18277000-18284600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:18277200-18284000	Weak transcription	Fetal Brain Male	brain
23	chr19:18277200-18284200	Weak transcription	HSMM	muscle
24	chr19:18277400-18284400	Weak transcription	Psoas Muscle	Psoas
25	chr19:18277400-18284400	Weak transcription	HMEC	breast
26	chr19:18277400-18284600	Weak transcription	Fetal Kidney	kidney
27	chr19:18278200-18284200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:18278400-18284000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:18278400-18284400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr19:18278600-18282600	Weak transcription	NHDF-Ad	bronchial
31	chr19:18278600-18284200	Enhancers	Primary B cells from cord blood	blood
32	chr19:18278600-18284400	Weak transcription	Primary T cells from cord blood	blood
33	chr19:18279200-18284200	Weak transcription	HSMMtube	muscle
34	chr19:18279400-18283800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr19:18279400-18283800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr19:18279400-18284200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:18279400-18284200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:18279600-18284200	Weak transcription	HepG2	liver
39	chr19:18279800-18282600	Weak transcription	K562	blood
40	chr19:18279800-18283000	Strong transcription	Fetal Stomach	stomach
41	chr19:18279800-18284200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr19:18279800-18284200	Weak transcription	Hela-S3	cervix
43	chr19:18279800-18284400	Weak transcription	HUVEC	blood vessel
44	chr19:18279800-18284600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:18280000-18282400	Weak transcription	Brain Substantia Nigra	brain
46	chr19:18280000-18284000	Weak transcription	Pancreas	Pancrea
47	chr19:18280000-18284200	Weak transcription	Brain Anterior Caudate	brain
48	chr19:18280000-18284200	Weak transcription	A549	lung
49	chr19:18280400-18282600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:18280400-18282800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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