Variant report

Variant	esv2754737
Chromosome Location	chr10:19710094-19740494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:
2	chr10:19724105..19725802-chr10:19728835..19730495,2	K562	blood:
3	chr10:19709784..19712687-chr10:19713625..19715285,2	K562	blood:
4	chr10:19702800..19704977-chr10:19710060..19711569,2	MCF-7	breast:
5	chr10:19701583..19703629-chr10:19722720..19725656,2	MCF-7	breast:
6	chr10:19709784..19712687-chr10:19713625..19715285,2	K562	blood:

Extended variants
information (count: 1505 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:1505 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543346487	chr10:19710107-19710108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527570101	chr10:19710125-19710126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552130526	chr10:19710126-19710127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192245407	chr10:19710140-19710141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80228585	chr10:19710280-19710281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551056021	chr10:19710297-19710298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569290854	chr10:19710329-19710330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11009827	chr10:19710332-19710333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554981247	chr10:19710340-19710341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369540293	chr10:19710575-19710576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573497995	chr10:19710663-19710664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114781619	chr10:19710691-19710692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558886811	chr10:19710729-19710730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577325934	chr10:19710734-19710735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543917311	chr10:19710740-19710741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs562213356	chr10:19710783-19710784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531985997	chr10:19710853-19710854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184306407	chr10:19710858-19710859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187179397	chr10:19710941-19710942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559711847	chr10:19710947-19710948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527636550	chr10:19710975-19710976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546034429	chr10:19710982-19710983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs564136704	chr10:19710996-19710997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34018130	chr10:19711006-19711007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191684935	chr10:19711098-19711099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140666541	chr10:19711132-19711133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569402856	chr10:19711240-19711241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530208397	chr10:19711266-19711267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184710023	chr10:19711273-19711274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556406081	chr10:19711289-19711290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566810213	chr10:19711336-19711337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534233575	chr10:19711366-19711367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559168737	chr10:19711388-19711389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547373422	chr10:19711389-19711390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374655264	chr10:19711404-19711405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565599464	chr10:19711424-19711425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529857557	chr10:19711431-19711432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189223313	chr10:19711469-19711470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs556320203	chr10:19711473-19711474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574236577	chr10:19711500-19711501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541524851	chr10:19711507-19711508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553494050	chr10:19711521-19711522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571968469	chr10:19711522-19711523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369968756	chr10:19711542-19711543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16918717	chr10:19711544-19711545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs180768835	chr10:19711548-19711549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531486774	chr10:19711550-19711551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78396750	chr10:19711564-19711565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185663767	chr10:19711583-19711584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74988061	chr10:19711609-19711610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19681000-19728200	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19695400-19739200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:19705600-19739000	Weak transcription	Fetal Intestine Large	intestine
4	chr10:19708600-19711400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr10:19708800-19712800	Enhancers	Fetal Lung	lung
6	chr10:19709200-19711400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:19709200-19714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:19709400-19711000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr10:19709400-19711200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr10:19709400-19713000	Enhancers	Fetal Brain Female	brain
11	chr10:19709600-19710200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr10:19709600-19710400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr10:19709600-19711000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr10:19709600-19711600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr10:19709800-19711400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr10:19709800-19712800	Enhancers	Brain Germinal Matrix	brain
17	chr10:19710000-19711800	Enhancers	Fetal Brain Male	brain
18	chr10:19710200-19712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:19710400-19710800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr10:19710800-19711000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr10:19711000-19711400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:19711000-19712400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr10:19711000-19714600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr10:19711400-19711800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:19711400-19712000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr10:19711400-19712600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:19711600-19712600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr10:19711800-19712000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr10:19712000-19712200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr10:19712000-19714000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr10:19712000-19714200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr10:19712200-19712600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:19712600-19712800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr10:19712600-19712800	Enhancers	H1 Cell Line	embryonic stem cell
35	chr10:19712600-19713000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr10:19712600-19713200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr10:19712800-19714000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr10:19712800-19714000	Weak transcription	Fetal Lung	lung
39	chr10:19713200-19713800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr10:19713800-19714000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr10:19714000-19714800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr10:19714000-19715200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr10:19714000-19715800	Enhancers	Fetal Lung	lung
44	chr10:19714200-19714600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr10:19714400-19714800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:19720800-19722000	Enhancers	NHEK	skin
47	chr10:19721600-19722400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr10:19728200-19728400	ZNF genes & repeats	Fetal Intestine Small	intestine
49	chr10:19728400-19734200	Weak transcription	Fetal Intestine Small	intestine
50	chr10:19734200-19735200	ZNF genes & repeats	Fetal Intestine Small	intestine

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