Variant report

Variant	esv3409320
Chromosome Location	chr2:191230245-191231352
allele	n/a
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	BCL3	chr2:191230313-191231529	GM12878	blood:	n/a	n/a
2	BCL3	chr2:191230424-191231450	GM12878	blood:	n/a	n/a
3	NFATC1	chr2:191230347-191231470	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:191230451-191231441	GM12878	blood:	n/a	n/a
5	PBX3	chr2:191230462-191231390	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:191230391-191231385	GM12892	blood:	n/a	n/a
7	STAT5A	chr2:191230450-191231412	GM12878	blood:	n/a	n/a
8	TCF3	chr2:191230956-191231309	GM12878	blood:	n/a	n/a
9	ZNF143	chr2:191230488-191230837	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZNF143	chr2:191231109-191231343	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191229465..191231914-chr2:191232411..191236009,3	K562	blood:
2	chr2:191229901..191232788-chr2:191235811..191237515,2	MCF-7	breast:

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151689	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185861442	chr2:191230287-191230288	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567236936	chr2:191230293-191230294	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs2067434	chr2:191230346-191230347	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs549877794	chr2:191230431-191230432	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569504059	chr2:191230450-191230451	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147652904	chr2:191230537-191230538	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529892964	chr2:191230572-191230573	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs386653736	chr2:191230580-191230581	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs371864212	chr2:191230581-191230582	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs377367801	chr2:191230584-191230585	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs370028530	chr2:191230587-191230588	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs200730014	chr2:191230588-191230589	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76951647	chr2:191230589-191230590	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs199617104	chr2:191230591-191230592	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs67431614	chr2:191230599-191230600	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs114220206	chr2:191230624-191230625	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191585978	chr2:191230637-191230638	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28593541	chr2:191230662-191230663	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12622983	chr2:191230666-191230667	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs573463543	chr2:191230668-191230669	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12616568	chr2:191230669-191230670	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534467557	chr2:191230678-191230679	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs200425766	chr2:191230686-191230687	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201768192	chr2:191230691-191230692	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs201133521	chr2:191230694-191230695	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs56023257	chr2:191230696-191230697	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs55691603	chr2:191230698-191230699	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs28571104	chr2:191230704-191230705	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs28444315	chr2:191230709-191230710	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
30	rs28584102	chr2:191230716-191230717	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374433669	chr2:191230718-191230719	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs28624159	chr2:191230720-191230721	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs111509720	chr2:191230725-191230726	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12616549	chr2:191230727-191230728	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs55728050	chr2:191230731-191230732	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs370688709	chr2:191230732-191230733	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs111214805	chr2:191230737-191230738	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs28588267	chr2:191230742-191230743	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs28530655	chr2:191230746-191230747	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs12616593	chr2:191230752-191230753	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56065811	chr2:191230763-191230764	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs55677319	chr2:191230769-191230770	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs575140325	chr2:191230777-191230778	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111214655	chr2:191230785-191230786	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs139867423	chr2:191230786-191230787	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs56289633	chr2:191230788-191230789	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs111214454	chr2:191230789-191230790	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs56338904	chr2:191230795-191230796	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs28734812	chr2:191230799-191230800	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369896050	chr2:191230806-191230807	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Ovarian cancer	21720365	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
3	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:191219600-191243800	Weak transcription	Gastric	stomach
5	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
6	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
7	chr2:191224200-191230400	Weak transcription	Esophagus	oesophagus
8	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:191225000-191230400	Weak transcription	Lung	lung
10	chr2:191225000-191232000	Weak transcription	Ovary	ovary
11	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
12	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
13	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
15	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
17	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
18	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
19	chr2:191225200-191230400	Weak transcription	Fetal Intestine Small	intestine
20	chr2:191225200-191230400	Weak transcription	Fetal Stomach	stomach
21	chr2:191225200-191231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:191225200-191231000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:191225200-191231800	Weak transcription	HSMMtube	muscle
24	chr2:191225200-191232000	Weak transcription	HepG2	liver
25	chr2:191225200-191232000	Weak transcription	Osteobl	bone
26	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:191225200-191233800	Weak transcription	NHLF	lung
29	chr2:191225200-191234400	Weak transcription	K562	blood
30	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
35	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
37	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:191225200-191236600	Weak transcription	NH-A	brain
41	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
43	chr2:191225200-191237000	Weak transcription	HMEC	breast
44	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr2:191225200-191238200	Weak transcription	NHEK	skin
47	chr2:191225200-191242800	Weak transcription	Fetal Kidney	kidney
48	chr2:191225200-191244000	Weak transcription	Fetal Heart	heart
49	chr2:191225200-191244800	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr2:191225400-191231200	Weak transcription	Fetal Lung	lung

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