Variant report

Variant	esv3419527
Chromosome Location	chr11:17195126-17197174
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	chr11:17197040-17197190	HEEpiC	esophagus:	n/a	n/a
2	POLR2A	chr11:17195331-17195335	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:17195370-17195391	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17194253..17196723-chr11:17227181..17229874,2	MCF-7	breast:
2	chr11:17193774..17196751-chr11:17204153..17207102,2	K562	blood:
3	chr11:17190320..17193251-chr11:17194290..17196394,2	K562	blood:
4	chr11:17196415..17198675-chr11:17200267..17202983,2	K562	blood:

Variant related genes	Relation type
PIK3C2A	TF binding region
ENSG00000011405	chromatin interactions
ENSG00000070081	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187406239	chr11:17195180-17195181	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577836525	chr11:17195189-17195190	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs544887891	chr11:17195193-17195194	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs151224999	chr11:17195291-17195292	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs191821470	chr11:17195339-17195340	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574639735	chr11:17195340-17195341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs140249082	chr11:17195343-17195344	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs374045801	chr11:17195345-17195346	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs562173854	chr11:17195375-17195376	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs575990083	chr11:17195409-17195410	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529373652	chr11:17195460-17195461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs182038235	chr11:17195474-17195475	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs559470467	chr11:17195483-17195484	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs185750538	chr11:17195510-17195511	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs214932	chr11:17195511-17195512	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs61879720	chr11:17195538-17195539	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs190405720	chr11:17195565-17195566	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs11826970	chr11:17195587-17195588	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567327870	chr11:17195601-17195602	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11820060	chr11:17195613-17195614	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs61879721	chr11:17195662-17195663	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571136226	chr11:17195694-17195695	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538296103	chr11:17195807-17195808	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs59916966	chr11:17195853-17195854	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs182885323	chr11:17195857-17195858	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs58257676	chr11:17195859-17195860	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs12788071	chr11:17195861-17195862	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs12788073	chr11:17195863-17195864	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
29	rs12788079	chr11:17195873-17195874	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs61879724	chr11:17195900-17195901	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
31	rs61879725	chr11:17195909-17195910	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs61879726	chr11:17195928-17195929	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs531178153	chr11:17195929-17195930	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs61879727	chr11:17195931-17195932	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs61879728	chr11:17195938-17195939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11024179	chr11:17195944-17195945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs549773217	chr11:17196020-17196021	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs556829613	chr11:17196073-17196074	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575184034	chr11:17196116-17196117	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs542369276	chr11:17196120-17196121	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs554480149	chr11:17196127-17196128	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573025927	chr11:17196130-17196131	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs562848958	chr11:17196140-17196141	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs71047532	chr11:17196141-17196142	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs398015431	chr11:17196156-17196157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs568046300	chr11:17196175-17196176	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs214931	chr11:17196184-17196185	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs214930	chr11:17196211-17196212	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs214929	chr11:17196251-17196252	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs189887748	chr11:17196263-17196264	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
2	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
3	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
6	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
8	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
9	chr11:17182000-17196800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:17182200-17196400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:17182200-17196800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:17184800-17228800	Weak transcription	Esophagus	oesophagus
13	chr11:17185200-17195400	Weak transcription	Gastric	stomach
14	chr11:17185800-17207400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:17185800-17212800	Weak transcription	Pancreas	Pancrea
16	chr11:17187000-17198000	Weak transcription	HMEC	breast
17	chr11:17187000-17212600	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:17187000-17228000	Weak transcription	Colonic Mucosa	Colon
19	chr11:17187200-17195400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:17187200-17207200	Weak transcription	K562	blood
21	chr11:17187200-17210000	Weak transcription	Psoas Muscle	Psoas
22	chr11:17187200-17210000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:17187200-17212600	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:17187200-17214000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:17187200-17214200	Weak transcription	Right Ventricle	heart
26	chr11:17187200-17226800	Weak transcription	Small Intestine	intestine
27	chr11:17189200-17197600	Weak transcription	Fetal Intestine Small	intestine
28	chr11:17189400-17203200	Weak transcription	Fetal Stomach	stomach
29	chr11:17190400-17197600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:17190800-17195400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:17191000-17199000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:17191000-17203800	Weak transcription	Liver	Liver
33	chr11:17191000-17204000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr11:17191000-17207600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:17191000-17210000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr11:17191000-17210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr11:17191000-17220600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr11:17191200-17198000	Weak transcription	Left Ventricle	heart
39	chr11:17191200-17201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:17191200-17202600	Weak transcription	Fetal Intestine Large	intestine
41	chr11:17191200-17204200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr11:17191200-17204400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:17191200-17204800	Weak transcription	Primary T cells from cord blood	blood
44	chr11:17191200-17208600	Weak transcription	GM12878-XiMat	blood
45	chr11:17191200-17209800	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:17191200-17210000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:17191200-17210000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:17191200-17212200	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:17191200-17212400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr11:17191200-17212600	Weak transcription	Duodenum Mucosa	Duodenum

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