Variant report

Variant	esv3529379
Chromosome Location	chr9:140458531-140464029
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:140459588-140459619	MCF-7	breast:	n/a	n/a
2	CTCF	chr9:140459573-140459628	MCF-7	breast:	n/a	n/a
3	CTCF	chr9:140459582-140459634	K562	blood:	n/a	n/a
4	CTCF	chr9:140459500-140459650	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr9:140459592-140459622	GM12878	blood:	n/a	n/a
6	CTCF	chr9:140459520-140459670	GM06990	blood:	n/a	n/a
7	POLR2A	chr9:140463653-140463873	K562	blood:	n/a	n/a
8	POLR2A	chr9:140462099-140462297	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr9:140463989-140465325	HepG2	liver:	n/a	n/a
10	POLR2A	chr9:140459534-140459848	GM12878	blood:	n/a	n/a
11	POLR2A	chr9:140460266-140460502	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:140458939-140459299	K562	blood:	n/a	n/a
13	POLR2A	chr9:140459330-140459372	HepG2	liver:	n/a	n/a
14	POLR2A	chr9:140458932-140459541	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:140459313-140459560	K562	blood:	n/a	n/a
16	POLR2A	chr9:140460206-140460396	GM12878	blood:	n/a	n/a
17	POLR2A	chr9:140463473-140463947	HepG2	liver:	n/a	n/a
18	POLR2A	chr9:140459350-140459534	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:140458689-140459132	GM12878	blood:	n/a	n/a
20	POLR2A	chr9:140459573-140459842	GM12891	blood:	n/a	n/a
21	POLR2A	chr9:140459497-140459704	HepG2	liver:	n/a	n/a
22	POLR2A	chr9:140459510-140459929	GM12891	blood:	n/a	n/a
23	POLR2A	chr9:140462027-140462210	GM12878	blood:	n/a	n/a
24	POLR2A	chr9:140459095-140459100	HepG2	liver:	n/a	n/a
25	POLR2A	chr9:140458863-140459045	GM12878	blood:	n/a	n/a
26	POLR2A	chr9:140458913-140458934	K562	blood:	n/a	n/a
27	POLR2A	chr9:140458295-140459037	HepG2	liver:	n/a	n/a
28	POLR2A	chr9:140460210-140460447	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:140459571-140459885	GM12892	blood:	n/a	n/a
30	POLR2A	chr9:140464016-140465002	GM12892	blood:	n/a	n/a
31	POLR2A	chr9:140459570-140459757	K562	blood:	n/a	n/a
32	POLR2A	chr9:140458954-140459560	K562	blood:	n/a	n/a
33	POLR2A	chr9:140464007-140465656	GM12878	blood:	n/a	n/a
34	POLR2A	chr9:140463226-140463232	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr9:140462044-140462220	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr9:140459570-140459777	GM12878	blood:	n/a	n/a
37	SPI1	chr9:140462973-140463246	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:140456633..140458761-chr9:140463562..140466881,4	K562	blood:
2	chr9:140463229..140465776-chr9:140474685..140477530,2	MCF-7	breast:
3	chr9:140455710..140458390-chr9:140463319..140465184,2	MCF-7	breast:
4	chr9:140456633..140458761-chr9:140463562..140466881,4	K562	blood:
5	chr9:140457953..140460745-chr9:140471921..140474546,2	K562	blood:
6	chr9:140450468..140452580-chr9:140456810..140458829,2	MCF-7	breast:
7	chr9:140448822..140451446-chr9:140457626..140459240,2	K562	blood:

No data

Variant related genes	Relation type
DPH7	TF binding region
ENSG00000148399	chromatin interactions

Extended variants
information (count: 257 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542645772	chr9:140458551-140458552	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369430644	chr9:140458565-140458566	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560602587	chr9:140458611-140458612	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183119045	chr9:140458617-140458618	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs145893287	chr9:140458621-140458622	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs372231006	chr9:140458627-140458628	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112813118	chr9:140458633-140458634	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs552310039	chr9:140458650-140458651	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs569184353	chr9:140458651-140458652	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187091122	chr9:140458658-140458659	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548509760	chr9:140458659-140458660	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191902086	chr9:140458660-140458661	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199616814	chr9:140458664-140458665	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534160813	chr9:140458697-140458698	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547553753	chr9:140458728-140458729	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530329979	chr9:140458731-140458732	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545103399	chr9:140458741-140458742	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs566253974	chr9:140458744-140458745	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78143222	chr9:140458746-140458747	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558279487	chr9:140458748-140458749	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs575236740	chr9:140458753-140458754	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs537440589	chr9:140458769-140458770	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs554930796	chr9:140458779-140458780	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574768246	chr9:140458814-140458815	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs1891625	chr9:140458826-140458827	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs367918537	chr9:140458848-140458849	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs372440194	chr9:140458871-140458872	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371653363	chr9:140458872-140458873	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560359997	chr9:140458883-140458884	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs577268013	chr9:140458886-140458887	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs376225258	chr9:140458889-140458890	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546236459	chr9:140458895-140458896	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs193920785	chr9:140458903-140458904	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531775600	chr9:140458908-140458909	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371105829	chr9:140458914-140458915	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201799290	chr9:140458916-140458917	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368988994	chr9:140458929-140458930	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs373123717	chr9:140458930-140458931	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs562061862	chr9:140458934-140458935	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373189839	chr9:140458935-140458936	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201776856	chr9:140458936-140458937	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs118104169	chr9:140458943-140458944	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs377177511	chr9:140458945-140458946	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs17855638	chr9:140458950-140458951	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs547590137	chr9:140458961-140458962	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs570985439	chr9:140458995-140458996	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs369931230	chr9:140459001-140459002	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200103991	chr9:140459004-140459005	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374074310	chr9:140459010-140459011	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200475571	chr9:140459011-140459012	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140446800-140459800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:140447000-140464200	Weak transcription	Fetal Kidney	kidney
3	chr9:140447200-140459400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:140447200-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr9:140447200-140470200	Weak transcription	Stomach Mucosa	stomach
6	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr9:140447400-140459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:140447400-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr9:140447400-140466800	Weak transcription	Psoas Muscle	Psoas
10	chr9:140447400-140469400	Weak transcription	Right Atrium	heart
11	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
12	chr9:140447600-140458800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:140447600-140459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr9:140447600-140459800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:140447600-140459800	Strong transcription	Fetal Stomach	stomach
16	chr9:140448000-140459600	Strong transcription	Fetal Brain Female	brain
17	chr9:140448400-140459600	Strong transcription	Fetal Intestine Large	intestine
18	chr9:140448800-140459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:140449000-140459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:140449200-140459600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr9:140449400-140459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:140449400-140459600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:140451000-140459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:140451000-140459600	Strong transcription	Fetal Intestine Small	intestine
27	chr9:140451000-140459800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:140451200-140459800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:140451200-140466800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr9:140451400-140459800	Strong transcription	Fetal Muscle Leg	muscle
31	chr9:140451400-140465000	Weak transcription	HSMM	muscle
32	chr9:140452600-140459400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:140452600-140459600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr9:140453000-140471400	Weak transcription	Fetal Brain Male	brain
35	chr9:140453600-140459600	Strong transcription	Primary T cells from cord blood	blood
36	chr9:140454000-140459200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr9:140454000-140459600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr9:140454200-140459600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:140454200-140459800	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:140454200-140459800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr9:140454400-140459600	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr9:140454800-140459400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:140455200-140466400	Weak transcription	HUVEC	blood vessel
44	chr9:140455600-140458800	Strong transcription	K562	blood
45	chr9:140455600-140459800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr9:140455800-140459800	Strong transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:140456000-140459200	Strong transcription	Fetal Lung	lung
48	chr9:140456000-140459400	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr9:140456000-140459400	Strong transcription	Brain Anterior Caudate	brain
50	chr9:140456000-140459600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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