Variant report

Variant	nsv961150
Chromosome Location	chr18:9207844-9212017
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	CEBPB	chr18:9209323-9209589	K562	blood:	n/a	n/a
2	CEBPB	chr18:9209303-9209559	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr18:9209281-9209619	K562	blood:	n/a	n/a
4	CEBPB	chr18:9209292-9209615	HepG2	liver:	n/a	n/a
5	CEBPB	chr18:9209278-9209612	IMR90	lung:	n/a	n/a
6	CEBPB	chr18:9209330-9209556	A549	lung:	n/a	n/a
7	CEBPB	chr18:9209311-9209575	Hela-S3	cervix:	n/a	n/a
8	GATA3	chr18:9210072-9210500	SK-N-SH	brain:	n/a	chr18:9210189-9210199
9	SPI1	chr18:9211080-9211307	GM12891	blood:	n/a	chr18:9211225-9211232 chr18:9211220-9211229
10	SPI1	chr18:9211118-9211275	GM12878	blood:	n/a	chr18:9211225-9211232 chr18:9211220-9211229
11	SPI1	chr18:9211024-9211395	GM12891	blood:	n/a	chr18:9211225-9211232 chr18:9211220-9211229
12	SPI1	chr18:9211043-9211351	GM12878	blood:	n/a	chr18:9211225-9211232 chr18:9211220-9211229

No.	Distal block	Cell Line	Cell type
1	chr18:9201149..9204433-chr18:9205696..9208292,3	K562	blood:
2	chr18:9211235..9213788-chr18:9215533..9217111,3	K562	blood:
3	chr18:9202054..9204266-chr18:9211528..9213526,2	MCF-7	breast:
4	chr18:9199977..9204433-chr18:9205247..9208292,4	K562	blood:
5	chr18:9195939..9198043-chr18:9208433..9210321,2	K562	blood:
6	chr18:9204077..9208041-chr18:9208940..9212355,4	K562	blood:
7	chr18:9204077..9208041-chr18:9208940..9212355,4	K562	blood:
8	chr18:9136075..9138683-chr18:9207289..9209442,2	K562	blood:

Variant related genes	Relation type
ANKRD12	TF binding region
ENSG00000266053	chromatin interactions
ENSG00000101745	chromatin interactions

Extended variants
information (count: 176 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529282948	chr18:9207854-9207855	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181790281	chr18:9207947-9207948	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569286575	chr18:9207966-9207967	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147793809	chr18:9208006-9208007	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116436457	chr18:9208044-9208045	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs185927313	chr18:9208066-9208067	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534164020	chr18:9208084-9208085	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs190628165	chr18:9208124-9208125	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs568109929	chr18:9208129-9208130	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs535539993	chr18:9208167-9208168	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs141364170	chr18:9208208-9208209	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181642896	chr18:9208220-9208221	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs186741653	chr18:9208233-9208234	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577385656	chr18:9208239-9208240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs112440173	chr18:9208266-9208267	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555603268	chr18:9208337-9208338	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575562676	chr18:9208348-9208349	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs544316815	chr18:9208353-9208354	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545670210	chr18:9208417-9208418	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs373587002	chr18:9208444-9208445	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560941252	chr18:9208485-9208486	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs557663434	chr18:9208491-9208492	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs191136311	chr18:9208494-9208495	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182878091	chr18:9208498-9208499	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs377587235	chr18:9208504-9208505	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561920903	chr18:9208524-9208525	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs558065909	chr18:9208530-9208531	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs71362073	chr18:9208546-9208547	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562845419	chr18:9208557-9208558	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs533394209	chr18:9208580-9208581	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs370800667	chr18:9208608-9208609	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs375071777	chr18:9208624-9208625	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375331453	chr18:9208626-9208627	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368331036	chr18:9208645-9208646	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372921602	chr18:9208669-9208670	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs200225970	chr18:9208714-9208715	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs527885254	chr18:9208785-9208786	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs200255172	chr18:9208811-9208812	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs186600003	chr18:9208819-9208820	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs546885617	chr18:9208864-9208865	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs535173231	chr18:9208877-9208878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs111498365	chr18:9208941-9208942	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs543511813	chr18:9208951-9208952	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34742526	chr18:9208972-9208973	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs568496081	chr18:9209015-9209016	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs191130384	chr18:9209020-9209021	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs557626455	chr18:9209021-9209022	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573004185	chr18:9209036-9209037	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs532373890	chr18:9209081-9209082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs183272271	chr18:9209120-9209121	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9172000-9216200	Weak transcription	Fetal Brain Female	brain
2	chr18:9173000-9208400	Weak transcription	NHLF	lung
3	chr18:9174600-9233600	Weak transcription	Spleen	Spleen
4	chr18:9174800-9211000	Weak transcription	Hela-S3	cervix
5	chr18:9174800-9233600	Weak transcription	Pancreas	Pancrea
6	chr18:9178000-9221800	Weak transcription	Fetal Heart	heart
7	chr18:9180200-9214200	Weak transcription	A549	lung
8	chr18:9181600-9214200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr18:9183400-9211400	Weak transcription	Brain Germinal Matrix	brain
10	chr18:9183800-9225600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr18:9184600-9233800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr18:9185200-9233800	Weak transcription	Right Ventricle	heart
13	chr18:9185400-9214200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr18:9185400-9223400	Weak transcription	Stomach Mucosa	stomach
15	chr18:9185600-9211000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr18:9185600-9232400	Weak transcription	Colonic Mucosa	Colon
17	chr18:9185800-9215200	Weak transcription	Small Intestine	intestine
18	chr18:9186000-9214400	Weak transcription	Brain Angular Gyrus	brain
19	chr18:9187000-9221800	Weak transcription	Fetal Brain Male	brain
20	chr18:9188400-9214400	Weak transcription	Brain Anterior Caudate	brain
21	chr18:9188400-9233600	Weak transcription	Esophagus	oesophagus
22	chr18:9188600-9233600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:9188800-9211600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:9188800-9218200	Weak transcription	Thymus	Thymus
25	chr18:9189000-9208400	Weak transcription	HSMMtube	muscle
26	chr18:9189200-9208600	Weak transcription	Ovary	ovary
27	chr18:9189200-9233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:9189400-9215000	Weak transcription	Aorta	Aorta
29	chr18:9192200-9210400	Weak transcription	Left Ventricle	heart
30	chr18:9192200-9215400	Weak transcription	Psoas Muscle	Psoas
31	chr18:9192200-9233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr18:9192200-9284000	Weak transcription	NHEK	skin
33	chr18:9192400-9211600	Weak transcription	HMEC	breast
34	chr18:9192400-9214400	Weak transcription	Fetal Muscle Leg	muscle
35	chr18:9193000-9211400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr18:9193200-9211200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr18:9193400-9224800	Weak transcription	Lung	lung
38	chr18:9193400-9230600	Weak transcription	Fetal Stomach	stomach
39	chr18:9193800-9211600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr18:9194200-9211400	Weak transcription	NH-A	brain
41	chr18:9194800-9219400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr18:9195200-9214400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr18:9195800-9211600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr18:9195800-9214400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:9196000-9208400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr18:9196000-9208600	Weak transcription	Dnd41	blood
47	chr18:9196000-9209800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr18:9196400-9208600	Weak transcription	Osteobl	bone
49	chr18:9196400-9211000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:9196400-9211400	Weak transcription	HUVEC	blood vessel

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