Variant report

Variant	esv3505907
Chromosome Location	chr12:104846342-104848322
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	CTCF	chr12:104846440-104846590	GM12865	blood:	n/a	n/a
2	REST	chr12:104845610-104846471	H1-neurons	neurons:	n/a	chr12:104846358-104846368
3	ZNF263	chr12:104846911-104847234	HEK293-T-REx	kidney:	n/a	chr12:104847059-104847080 chr12:104847100-104847121

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104822038..104824014-chr12:104845954..104848483,2	K562	blood:
2	chr12:104845965..104848831-chr12:104848976..104852004,3	K562	blood:

Variant related genes	Relation type
CHST11	TF binding region
ENSG00000171310	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374688200	chr12:104846399-104846400	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs538132661	chr12:104846415-104846416	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs573343491	chr12:104846441-104846442	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs17035622	chr12:104846453-104846454	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs180751658	chr12:104846478-104846479	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377515263	chr12:104846507-104846508	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs113698472	chr12:104846509-104846510	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556231425	chr12:104846522-104846523	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs141244342	chr12:104846536-104846537	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs574528434	chr12:104846617-104846618	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186619066	chr12:104846618-104846619	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544884629	chr12:104846634-104846635	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535296196	chr12:104846637-104846638	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11615633	chr12:104846642-104846643	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs150780152	chr12:104846646-104846647	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs546154179	chr12:104846647-104846648	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs139193610	chr12:104846653-104846654	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532187345	chr12:104846656-104846657	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs199626910	chr12:104846667-104846668	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145321298	chr12:104846668-104846669	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147641802	chr12:104846676-104846677	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564057941	chr12:104846685-104846686	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs575997211	chr12:104846691-104846692	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs530475373	chr12:104846702-104846703	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs537698003	chr12:104846730-104846731	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs59402268	chr12:104846733-104846734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568400900	chr12:104846778-104846779	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs541270103	chr12:104846828-104846829	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs553377305	chr12:104846850-104846851	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75810639	chr12:104846897-104846898	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78194046	chr12:104846900-104846901	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558829547	chr12:104846906-104846907	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372180958	chr12:104846911-104846912	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546224610	chr12:104846912-104846913	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs61327531	chr12:104846926-104846927	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs73183763	chr12:104846927-104846928	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375670799	chr12:104846981-104846982	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544436604	chr12:104846984-104846985	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs61937667	chr12:104846999-104847000	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7489168	chr12:104847009-104847010	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs77178221	chr12:104847014-104847015	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540454160	chr12:104847053-104847054	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559678881	chr12:104847065-104847066	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs144824598	chr12:104847141-104847142	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368679178	chr12:104847143-104847144	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532052253	chr12:104847152-104847153	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs145235773	chr12:104847154-104847155	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149174441	chr12:104847185-104847186	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562474135	chr12:104847200-104847201	Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs12315553	chr12:104847314-104847315	Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:65)

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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104840000-104849800	Weak transcription	Aorta	Aorta
2	chr12:104844200-104848200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104844400-104849400	Weak transcription	Spleen	Spleen
4	chr12:104845600-104846600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:104845600-104847400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:104845800-104846400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:104845800-104846400	Enhancers	Fetal Brain Male	brain
8	chr12:104845800-104846600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:104846000-104846400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:104846000-104846600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:104846000-104847400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:104846400-104849800	Weak transcription	Fetal Brain Male	brain
13	chr12:104846600-104849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:104847200-104847400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr12:104847200-104847400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr12:104847400-104848600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:104848200-104848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:104848200-104849800	Enhancers	HMEC	breast
19	chr12:104848200-104849800	Enhancers	NHEK	skin
20	chr12:104848200-104850000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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