Variant report

Variant	esv15157
Chromosome Location	chr9:140459557-140463142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:140459592-140459622	GM12878	blood:	n/a	n/a
2	CTCF	chr9:140459582-140459634	K562	blood:	n/a	n/a
3	CTCF	chr9:140459520-140459670	GM06990	blood:	n/a	n/a
4	CTCF	chr9:140459500-140459650	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr9:140459573-140459628	MCF-7	breast:	n/a	n/a
6	CTCF	chr9:140459588-140459619	MCF-7	breast:	n/a	n/a
7	POLR2A	chr9:140459570-140459777	GM12878	blood:	n/a	n/a
8	POLR2A	chr9:140462027-140462210	GM12878	blood:	n/a	n/a
9	POLR2A	chr9:140462044-140462220	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:140459573-140459842	GM12891	blood:	n/a	n/a
11	POLR2A	chr9:140459497-140459704	HepG2	liver:	n/a	n/a
12	POLR2A	chr9:140462099-140462297	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:140459571-140459885	GM12892	blood:	n/a	n/a
14	POLR2A	chr9:140459534-140459848	GM12878	blood:	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	chr9:140458954-140459560	K562	blood:	n/a	n/a
18	POLR2A	chr9:140460266-140460502	GM12878	blood:	n/a	n/a
19	POLR2A	chr9:140460210-140460447	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr9:140459510-140459929	GM12891	blood:	n/a	n/a
21	POLR2A	chr9:140459570-140459757	K562	blood:	n/a	n/a
22	SPI1	chr9:140462973-140463246	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:140457953..140460745-chr9:140471921..140474546,2	K562	blood:

No data

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

Extended variants
information (count: 147 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:147 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137935280	chr9:140459562-140459563	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs62000380	chr9:140459563-140459564	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs144597061	chr9:140459582-140459583	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs531404931	chr9:140459596-140459597	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373555595	chr9:140459602-140459603	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs181644541	chr9:140459604-140459605	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568018136	chr9:140459620-140459621	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368546240	chr9:140459655-140459656	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184458517	chr9:140459671-140459672	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554080185	chr9:140459672-140459673	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112671826	chr9:140459696-140459697	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs202023302	chr9:140459702-140459703	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11137133	chr9:140459724-140459725	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
14	rs200465503	chr9:140459731-140459732	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs373503665	chr9:140459738-140459739	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs71493674	chr9:140459760-140459761	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs143882698	chr9:140459761-140459762	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71499178	chr9:140459782-140459783	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs201565155	chr9:140459788-140459789	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs56072414	chr9:140459790-140459791	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12005906	chr9:140459792-140459793	Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs35044850	chr9:140459810-140459811	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs199501063	chr9:140459813-140459814	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs200538252	chr9:140459817-140459818	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113640885	chr9:140459824-140459825	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs71510830	chr9:140459840-140459841	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs9410100	chr9:140459843-140459844	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs375635752	chr9:140459870-140459871	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140876555	chr9:140459873-140459874	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201150052	chr9:140459878-140459879	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs58224794	chr9:140459879-140459880	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs9410031	chr9:140459884-140459885	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs74211908	chr9:140459900-140459901	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs199791991	chr9:140459906-140459907	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs377531765	chr9:140459907-140459908	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs577946498	chr9:140459908-140459909	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs200697038	chr9:140459934-140459935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs551032610	chr9:140459956-140459957	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369751631	chr9:140459963-140459964	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373267650	chr9:140459993-140459994	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2987616	chr9:140460016-140460017	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542407593	chr9:140460025-140460026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111790963	chr9:140460030-140460031	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2995671	chr9:140460046-140460047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs59229002	chr9:140460060-140460061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs572031465	chr9:140460076-140460077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57471385	chr9:140460090-140460091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9410103	chr9:140460139-140460140	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9410024	chr9:140460196-140460197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs60946926	chr9:140460226-140460227	Weak transcription	TF binding region Chromatin interactive region	2 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:245 , 50 per page) page: 1 2 3 4 5

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	chr9:140447200-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr9:140447200-140470200	Weak transcription	Stomach Mucosa	stomach
5	chr9:140447200-140471800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:140447400-140459800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:140447400-140466400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr9:140447400-140466800	Weak transcription	Psoas Muscle	Psoas
9	chr9:140447400-140469400	Weak transcription	Right Atrium	heart
10	chr9:140447400-140471800	Weak transcription	Small Intestine	intestine
11	chr9:140447600-140459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:140447600-140459800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr9:140447600-140459800	Strong transcription	Fetal Stomach	stomach
14	chr9:140448000-140459600	Strong transcription	Fetal Brain Female	brain
15	chr9:140448400-140459600	Strong transcription	Fetal Intestine Large	intestine
16	chr9:140448800-140459800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr9:140449000-140459600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:140449200-140459600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:140449400-140459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:140449400-140459600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:140449400-140459600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:140451000-140459600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:140451000-140459600	Strong transcription	Fetal Intestine Small	intestine
25	chr9:140451000-140459800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:140451200-140459800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:140451200-140466800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr9:140451400-140459800	Strong transcription	Fetal Muscle Leg	muscle
29	chr9:140451400-140465000	Weak transcription	HSMM	muscle
30	chr9:140452600-140459600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr9:140453000-140471400	Weak transcription	Fetal Brain Male	brain
32	chr9:140453600-140459600	Strong transcription	Primary T cells from cord blood	blood
33	chr9:140454000-140459600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:140454200-140459600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:140454200-140459800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:140454200-140459800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr9:140454400-140459600	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr9:140455200-140466400	Weak transcription	HUVEC	blood vessel
39	chr9:140455600-140459800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr9:140455800-140459800	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr9:140456000-140459600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr9:140456000-140459600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:140456000-140459600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr9:140456000-140459800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:140456000-140459800	Strong transcription	Placenta	Placenta
46	chr9:140456400-140459600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr9:140456400-140459600	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr9:140456400-140459800	Strong transcription	Osteobl	bone
49	chr9:140456600-140459600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr9:140456600-140459600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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