Variant report

Variant	esv3497732
Chromosome Location	chr18:9121988-9124378
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	chr18:9123655-9123855	IMR90	lung:	n/a	chr18:9123704-9123715
2	CEBPB	chr18:9123654-9123832	K562	blood:	n/a	chr18:9123704-9123715
3	CEBPB	chr18:9123686-9123865	HepG2	liver:	n/a	chr18:9123704-9123715
4	CEBPB	chr18:9123681-9123806	Hela-S3	cervix:	n/a	chr18:9123704-9123715
5	EP300	chr18:9122701-9122733	K562	blood:	n/a	n/a
6	POLR2A	chr18:9121859-9122003	GM12878	blood:	n/a	n/a
7	POLR2A	chr18:9123827-9123877	HepG2	liver:	n/a	n/a
8	POLR2A	chr18:9123467-9123866	HepG2	liver:	n/a	n/a
9	POLR2A	chr18:9123630-9123631	K562	blood:	n/a	n/a
10	POLR2A	chr18:9123523-9123630	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr18:9123579-9123836	K562	blood:	n/a	n/a
12	POLR2A	chr18:9123667-9123821	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr18:9123869-9123922	HepG2	liver:	n/a	n/a
14	POLR2A	chr18:9123252-9123502	K562	blood:	n/a	n/a
15	POLR2A	chr18:9123682-9123875	K562	blood:	n/a	n/a
16	POLR2A	chr18:9123517-9123850	GM12878	blood:	n/a	n/a
17	POLR2A	chr18:9123518-9123874	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr18:9123551-9123769	MCF-7	breast:	n/a	n/a
19	POLR2A	chr18:9123037-9123139	MCF10A-Er-Src	breast:	n/a	n/a
20	SPI1	chr18:9122148-9122338	GM12891	blood:	n/a	chr18:9122262-9122275 chr18:9122263-9122276 chr18:9122262-9122275
21	SPI1	chr18:9122071-9122421	HL-60	blood:	n/a	chr18:9122262-9122275 chr18:9122263-9122276 chr18:9122262-9122275
22	SPI1	chr18:9122145-9122497	HL-60	blood:	n/a	chr18:9122262-9122275 chr18:9122263-9122276 chr18:9122262-9122275
23	TCF7L2	chr18:9122918-9123125	HepG2	liver:	n/a	n/a
24	TCF7L2	chr18:9123606-9123650	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9121338..9123244-chr18:9131566..9133474,2	MCF-7	breast:
2	chr18:9121016..9123178-chr18:9135451..9137656,3	MCF-7	breast:
3	chr18:9118013..9119695-chr18:9119782..9122411,2	MCF-7	breast:
4	chr18:9120335..9122312-chr18:9122344..9126216,3	MCF-7	breast:
5	chr18:9115568..9117749-chr18:9121152..9124030,3	MCF-7	breast:
6	chr18:9123369..9127442-chr18:9129820..9133797,5	MCF-7	breast:
7	chr18:9120335..9122312-chr18:9122344..9126216,3	MCF-7	breast:

Variant related genes	Relation type
NDUFV2	TF binding region
ENSG00000101745	chromatin interactions
ENSG00000266053	chromatin interactions
ENSG00000178127	chromatin interactions
ENSG00000263847	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555697690	chr18:9121995-9121996	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs34584890	chr18:9121997-9121998	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs116093442	chr18:9122001-9122002	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs141703701	chr18:9122011-9122012	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs556356222	chr18:9122014-9122015	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs35216826	chr18:9122078-9122079	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs201608902	chr18:9122111-9122112	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs183761191	chr18:9122113-9122114	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs576489258	chr18:9122139-9122140	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs530600344	chr18:9122146-9122147	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs189290120	chr18:9122151-9122152	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs560393406	chr18:9122181-9122182	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs368498434	chr18:9122184-9122185	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs139255696	chr18:9122248-9122249	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs143164871	chr18:9122254-9122255	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs182215009	chr18:9122269-9122270	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs550082380	chr18:9122297-9122298	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs143831011	chr18:9122339-9122340	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs532605501	chr18:9122361-9122362	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs551448216	chr18:9122380-9122381	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs372080661	chr18:9122411-9122412	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs566493230	chr18:9122475-9122476	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs533760531	chr18:9122486-9122487	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs551940297	chr18:9122505-9122506	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs142452461	chr18:9122508-9122509	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs147110431	chr18:9122532-9122533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs373689008	chr18:9122542-9122543	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs201379044	chr18:9122553-9122554	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs200422010	chr18:9122573-9122574	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs377682934	chr18:9122581-9122582	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs199560855	chr18:9122586-9122587	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs76552443	chr18:9122591-9122592	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs370934998	chr18:9122603-9122604	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs72935225	chr18:9122611-9122612	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs141981639	chr18:9122631-9122632	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs148158107	chr18:9122638-9122639	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs374109639	chr18:9122658-9122659	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs538112556	chr18:9122691-9122692	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs185554193	chr18:9122736-9122737	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs115980625	chr18:9122776-9122777	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs4148968	chr18:9122781-9122782	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs374575323	chr18:9122793-9122794	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs538501140	chr18:9122911-9122912	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs548114121	chr18:9122954-9122955	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs376232706	chr18:9122967-9122968	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs554215328	chr18:9122972-9122973	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs572479358	chr18:9123003-9123004	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs530210867	chr18:9123017-9123018	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs543644168	chr18:9123021-9123022	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs368005781	chr18:9123121-9123122	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9104400-9130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9106200-9123200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:9107600-9123200	Weak transcription	Thymus	Thymus
6	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
7	chr18:9108200-9123000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr18:9108200-9127200	Weak transcription	Fetal Brain Female	brain
9	chr18:9109600-9123200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:9111200-9125400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr18:9111600-9126800	Weak transcription	Colonic Mucosa	Colon
12	chr18:9111800-9123400	Weak transcription	Fetal Stomach	stomach
13	chr18:9114000-9123200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr18:9114000-9123400	Weak transcription	Fetal Intestine Small	intestine
15	chr18:9114000-9127400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr18:9114000-9130800	Weak transcription	Ovary	ovary
17	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr18:9115800-9134800	Strong transcription	Dnd41	blood
19	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
20	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
21	chr18:9117400-9123400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr18:9117400-9125800	Weak transcription	Right Atrium	heart
23	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
24	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
26	chr18:9117400-9135800	Weak transcription	Gastric	stomach
27	chr18:9117600-9123400	Weak transcription	Left Ventricle	heart
28	chr18:9117600-9123400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:9117600-9127400	Weak transcription	Spleen	Spleen
30	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
32	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
33	chr18:9117800-9122400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr18:9117800-9124000	Strong transcription	HepG2	liver
35	chr18:9117800-9127200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr18:9117800-9128800	Weak transcription	Lung	lung
37	chr18:9117800-9132600	Weak transcription	Aorta	Aorta
38	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
41	chr18:9118200-9124400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr18:9118200-9134400	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr18:9118400-9134400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr18:9118600-9123800	Strong transcription	Fetal Kidney	kidney
46	chr18:9118600-9123800	Strong transcription	Hela-S3	cervix
47	chr18:9118600-9134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr18:9118600-9135000	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr18:9118800-9122800	Enhancers	Primary T cells from cord blood	blood
50	chr18:9118800-9123000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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