Variant report

Variant	esv3434744
Chromosome Location	chr12:121209303-121209876
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:121208921-121209334	NB4	blood:	n/a	n/a
2	MYC	chr12:121208892-121209328	NB4	blood:	n/a	n/a
3	POLR2A	chr12:121209626-121209675	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121208540..121211022-chr12:121211135..121213895,3	K562	blood:
2	chr12:121203090..121205836-chr12:121209356..121211928,2	MCF-7	breast:
3	chr12:121205065..121207154-chr12:121208257..121210269,2	K562	blood:
4	chr12:121198595..121200409-chr12:121209397..121212163,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPPL3	TF binding region
ENSG00000157837	chromatin interactions
ENSG00000255946	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569235869	chr12:121209312-121209313	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538141320	chr12:121209344-121209345	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs183639100	chr12:121209354-121209355	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs67110769	chr12:121209355-121209356	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs386377943	chr12:121209360-121209361	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs74918067	chr12:121209361-121209362	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs58306542	chr12:121209362-121209363	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75525411	chr12:121209363-121209364	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs201180832	chr12:121209369-121209370	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577787451	chr12:121209383-121209384	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533681946	chr12:121209396-121209397	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111289103	chr12:121209415-121209416	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540089895	chr12:121209421-121209422	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs56163702	chr12:121209435-121209436	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73227036	chr12:121209508-121209509	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs61948180	chr12:121209527-121209528	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs633084	chr12:121209540-121209541	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs531160265	chr12:121209548-121209549	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs370503144	chr12:121209552-121209553	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544910162	chr12:121209559-121209560	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs564590042	chr12:121209597-121209598	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs533659862	chr12:121209601-121209602	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372417037	chr12:121209630-121209631	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs567062562	chr12:121209645-121209646	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs529418191	chr12:121209659-121209660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs543441753	chr12:121209699-121209700	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs575517337	chr12:121209702-121209703	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs549451843	chr12:121209704-121209705	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs569296782	chr12:121209711-121209712	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs537818506	chr12:121209723-121209724	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551739812	chr12:121209729-121209730	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571480891	chr12:121209844-121209845	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs141607978	chr12:121209860-121209861	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121196800-121212800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr12:121197200-121210000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:121197400-121209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:121197400-121212600	Strong transcription	Thymus	Thymus
5	chr12:121197400-121220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:121197600-121210400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:121197800-121212400	Strong transcription	Liver	Liver
8	chr12:121197800-121220400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr12:121198000-121212000	Strong transcription	Adipose Nuclei	Adipose
10	chr12:121198200-121211400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:121198400-121209800	Strong transcription	Dnd41	blood
12	chr12:121198400-121212200	Strong transcription	Primary B cells from cord blood	blood
13	chr12:121198400-121220800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:121199000-121211600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:121199200-121209600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:121199800-121211400	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:121199800-121211800	Weak transcription	Right Atrium	heart
18	chr12:121200200-121213000	Strong transcription	Fetal Stomach	stomach
19	chr12:121200400-121209800	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:121200400-121210000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:121200600-121210000	Strong transcription	Esophagus	oesophagus
22	chr12:121200600-121211200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:121200600-121222600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr12:121201000-121211800	Weak transcription	Fetal Heart	heart
25	chr12:121201000-121212000	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:121201000-121212600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr12:121201200-121217600	Strong transcription	Primary T cells from cord blood	blood
28	chr12:121201400-121209400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr12:121204400-121220200	Weak transcription	NHDF-Ad	bronchial
30	chr12:121204800-121211800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:121204800-121212000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:121204800-121213800	Strong transcription	Fetal Intestine Large	intestine
33	chr12:121205200-121221000	Weak transcription	Stomach Mucosa	stomach
34	chr12:121205600-121211200	Weak transcription	Psoas Muscle	Psoas
35	chr12:121205600-121212600	Strong transcription	Placenta	Placenta
36	chr12:121205600-121213800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr12:121206000-121219400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr12:121206200-121238600	Weak transcription	Small Intestine	intestine
39	chr12:121206400-121211800	Weak transcription	HUVEC	blood vessel
40	chr12:121206400-121213400	Strong transcription	Fetal Intestine Small	intestine
41	chr12:121206600-121219800	Weak transcription	Fetal Brain Male	brain
42	chr12:121206600-121220400	Weak transcription	NH-A	brain
43	chr12:121206600-121220600	Weak transcription	NHLF	lung
44	chr12:121206800-121209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:121206800-121211600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr12:121206800-121218600	Weak transcription	A549	lung
47	chr12:121206800-121218800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:121206800-121219400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr12:121206800-121219400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:121206800-121220000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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