Variant report

Variant	esv3428049
Chromosome Location	chr18:12324002-12326800
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12306391..12309580-chr18:12325150..12328267,3	MCF-7	breast:
2	chr18:12326458..12332320-chr18:12374113..12378268,7	K562	blood:
3	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:
4	chr18:12306580..12311152-chr18:12324883..12329594,7	K562	blood:
5	chr18:12326777..12329132-chr18:12461073..12463843,2	K562	blood:
6	chr1:95198862..95199362-chr18:12326753..12327254,2	NB4	blood:
7	chr18:12325110..12326750-chr18:12329700..12331543,2	K562	blood:
8	chr18:12321262..12324555-chr18:12324806..12328664,5	K562	blood:
9	chr18:12326610..12329531-chr18:12345166..12347702,2	MCF-7	breast:
10	chr18:12321262..12324555-chr18:12324806..12328664,5	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	TUBB6	hsa-miR-124-3p	chr18:12326482-12326503

Variant related genes	Relation type
ENSG00000141385	chromatin interactions
ENSG00000176014	chromatin interactions

Extended variants
information (count: 128 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:128 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149599894	chr18:12324004-12324005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187289594	chr18:12324043-12324044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9946698	chr18:12324097-12324098	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs529170634	chr18:12324144-12324145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374754528	chr18:12324196-12324197	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565121813	chr18:12324238-12324239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532174054	chr18:12324262-12324263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551873572	chr18:12324311-12324312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548102943	chr18:12324316-12324317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377325048	chr18:12324326-12324327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547809402	chr18:12324369-12324370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190378523	chr18:12324402-12324403	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549441371	chr18:12324423-12324424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373178910	chr18:12324444-12324445	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201642073	chr18:12324445-12324446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183726950	chr18:12324480-12324481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs58014572	chr18:12324511-12324512	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61037393	chr18:12324528-12324529	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370535586	chr18:12324529-12324530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57833225	chr18:12324534-12324535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs58565409	chr18:12324538-12324539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142967320	chr18:12324563-12324564	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538569318	chr18:12324572-12324573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59441956	chr18:12324574-12324575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs61686567	chr18:12324575-12324576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556565758	chr18:12324576-12324577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578137925	chr18:12324596-12324597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538832408	chr18:12324607-12324608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188626653	chr18:12324765-12324766	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571846729	chr18:12324796-12324797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193259238	chr18:12324848-12324849	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150936029	chr18:12324873-12324874	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs558322520	chr18:12324922-12324923	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147539795	chr18:12324936-12324937	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543715533	chr18:12324940-12324941	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs114416389	chr18:12324971-12324972	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376652116	chr18:12324979-12324980	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370583249	chr18:12324991-12324992	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182569434	chr18:12324999-12325000	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs62095700	chr18:12325021-12325022	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374385700	chr18:12325041-12325042	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs74724184	chr18:12325042-12325043	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139388838	chr18:12325100-12325101	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374304662	chr18:12325104-12325105	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs61743679	chr18:12325142-12325143	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368245437	chr18:12325150-12325151	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144890684	chr18:12325163-12325164	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs11548179	chr18:12325169-12325170	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148645230	chr18:12325202-12325203	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs55684416	chr18:12325222-12325223	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:248 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12310000-12324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
3	chr18:12310200-12324800	Weak transcription	HepG2	liver
4	chr18:12311000-12324800	Weak transcription	Spleen	Spleen
5	chr18:12312600-12325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr18:12312800-12324800	Weak transcription	Colonic Mucosa	Colon
8	chr18:12312800-12324800	Weak transcription	Fetal Brain Female	brain
9	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:12314200-12327800	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr18:12314400-12342600	Weak transcription	Small Intestine	intestine
12	chr18:12314600-12324400	Weak transcription	Brain Germinal Matrix	brain
13	chr18:12315600-12324800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr18:12316200-12324600	Weak transcription	Gastric	stomach
15	chr18:12316200-12325000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:12316400-12333600	Weak transcription	Fetal Brain Male	brain
17	chr18:12316600-12324400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr18:12316600-12324800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:12316600-12327000	Weak transcription	Stomach Mucosa	stomach
20	chr18:12316800-12327600	Strong transcription	HUVEC	blood vessel
21	chr18:12317600-12324800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr18:12318000-12325000	Weak transcription	Hela-S3	cervix
23	chr18:12318000-12331200	Strong transcription	HMEC	breast
24	chr18:12318400-12324800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr18:12318400-12334800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr18:12318600-12324400	Weak transcription	Thymus	Thymus
27	chr18:12318600-12324800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr18:12318600-12324800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr18:12318600-12324800	Weak transcription	Aorta	Aorta
30	chr18:12318600-12324800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr18:12318600-12325200	Weak transcription	Psoas Muscle	Psoas
32	chr18:12318600-12331600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr18:12318800-12324800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:12318800-12324800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr18:12318800-12324800	Strong transcription	Fetal Stomach	stomach
36	chr18:12318800-12325000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:12318800-12327200	Weak transcription	Right Atrium	heart
38	chr18:12318800-12327600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr18:12319000-12333800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr18:12319000-12336800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr18:12319600-12325400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr18:12320000-12324800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:12320200-12324400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr18:12320200-12331200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:12320400-12328000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr18:12320600-12325000	Strong transcription	Fetal Intestine Large	intestine
47	chr18:12320600-12331400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr18:12320800-12324600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr18:12320800-12348200	Strong transcription	Fetal Intestine Small	intestine
50	chr18:12321000-12324200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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