Variant report

Variant	esv3391494
Chromosome Location	chr7:140060483-140064781
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	CBX3	chr7:140060608-140060950	K562	blood:	n/a	n/a
2	EP300	chr7:140063501-140063736	SK-N-SH_RA	brain:	n/a	n/a
3	GATA2	chr7:140063513-140064047	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr7:140063458-140063972	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:140063576-140063917	SH-SY5Y	brain:	n/a	n/a
6	MYC	chr7:140064611-140064932	MCF10A-Er-Src	breast:	n/a	n/a
7	NR2F2	chr7:140063102-140063515	K562	blood:	n/a	n/a
8	NR2F2	chr7:140062999-140063571	K562	blood:	n/a	n/a
9	SPI1	chr7:140064729-140065150	GM12891	blood:	n/a	chr7:140064982-140064991 chr7:140064784-140064793
10	ZNF143	chr7:140060732-140060860	K562	blood:	n/a	n/a
11	ZNF384	chr7:140063473-140063657	K562	blood:	n/a	n/a
12	ZNF384	chr7:140060413-140060830	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140063593..140066561-chr7:140103123..140105495,2	MCF-7	breast:
2	chr7:139875437..139877407-chr7:140058708..140060608,2	K562	blood:

Variant related genes	Relation type
SLC37A3	TF binding region
ENSG00000006459	chromatin interactions
ENSG00000157800	chromatin interactions
ENSG00000260231	chromatin interactions
ENSG00000146955	chromatin interactions

Extended variants
information (count: 159 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:159 , 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	rs377586637	chr7:140060517-140060518	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34383272	chr7:140060532-140060533	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs562809430	chr7:140060533-140060534	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs10631882	chr7:140060546-140060547	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs55744650	chr7:140060549-140060550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs574670265	chr7:140060619-140060620	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188626549	chr7:140060633-140060634	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117614780	chr7:140060636-140060637	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528328871	chr7:140060646-140060647	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7792038	chr7:140060653-140060654	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs386718451	chr7:140060725-140060726	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6978245	chr7:140060726-140060727	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs149026757	chr7:140060731-140060732	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6464710	chr7:140060762-140060763	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561968868	chr7:140060778-140060779	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193258286	chr7:140060786-140060787	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568880999	chr7:140060858-140060859	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547739130	chr7:140060865-140060866	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183774003	chr7:140060978-140060979	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533518188	chr7:140060979-140060980	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376620665	chr7:140061004-140061005	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11269027	chr7:140061005-140061006	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386718452	chr7:140061006-140061007	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534226933	chr7:140061007-140061008	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375530780	chr7:140061008-140061009	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368955120	chr7:140061010-140061011	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537984347	chr7:140061049-140061050	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4587251	chr7:140061057-140061058	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370223325	chr7:140061085-140061086	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138672858	chr7:140061099-140061100	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566845485	chr7:140061100-140061101	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9691058	chr7:140061119-140061120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs200427242	chr7:140061179-140061180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555977447	chr7:140061255-140061256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553740278	chr7:140061258-140061259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572314450	chr7:140061271-140061272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs67985863	chr7:140061298-140061299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs71552606	chr7:140061304-140061305	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
39	rs71552607	chr7:140061310-140061311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188447058	chr7:140061316-140061317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181207918	chr7:140061322-140061323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368659728	chr7:140061583-140061584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372378832	chr7:140061611-140061612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs7789898	chr7:140061619-140061620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532120563	chr7:140061744-140061745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113726969	chr7:140061767-140061768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7778314	chr7:140061774-140061775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534307838	chr7:140061777-140061778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543542703	chr7:140061869-140061870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563258071	chr7:140061870-140061871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Bladder cancer	21909424	CNVD
Cancer	21129771	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell acute lymphoblastic leukemia	16673021	CNVD
Cancer	21183584	CNVD
Intracranial ependymoma	16609018	CNVD
Non-small cell lung cancer	21829676	CNVD
Developmental delay	19490664	CNVD
Pancreatitis	20877625	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Low-grade astrocytoma	19016743	CNVD
Medulloblastoma	16968546	CNVD
Pilocytic astrocytoma	18408760	CNVD
Idiopathic chronic pancreatitis	19584086	CNVD
Pediatric low-grade astrocytoma	19016743	CNVD
Acute lymphoblastic leukemia	17315016	CNVD
Gastric cancer	16891809	CNVD
Cancer	17440070	CNVD
Astrocytoma	18398503	CNVD
Melanoma	19671679	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140026600-140060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
3	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
4	chr7:140035000-140074200	Weak transcription	Right Atrium	heart
5	chr7:140035200-140060600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:140038000-140061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:140038200-140061200	Strong transcription	Fetal Stomach	stomach
8	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
9	chr7:140046000-140076200	Weak transcription	Right Ventricle	heart
10	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
11	chr7:140047800-140064400	Weak transcription	HMEC	breast
12	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:140049600-140061200	Strong transcription	Fetal Muscle Trunk	muscle
14	chr7:140049600-140061200	Strong transcription	Dnd41	blood
15	chr7:140049600-140067800	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:140049600-140076000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:140049600-140078000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:140049600-140078600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:140049600-140079400	Weak transcription	Brain Substantia Nigra	brain
20	chr7:140049800-140061000	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr7:140050000-140061000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:140050000-140061000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr7:140050200-140061200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:140050200-140079200	Weak transcription	HUVEC	blood vessel
25	chr7:140051000-140061000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:140051400-140068400	Weak transcription	HSMM	muscle
27	chr7:140051600-140076400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr7:140052600-140075600	Weak transcription	Pancreas	Pancrea
30	chr7:140052800-140079600	Weak transcription	NHDF-Ad	bronchial
31	chr7:140054200-140079800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:140054600-140061200	Strong transcription	Fetal Intestine Small	intestine
33	chr7:140054600-140077800	Weak transcription	Brain Angular Gyrus	brain
34	chr7:140055000-140063400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:140055000-140063600	Weak transcription	Fetal Lung	lung
36	chr7:140055000-140068600	Weak transcription	Primary B cells from cord blood	blood
37	chr7:140055000-140068600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr7:140055000-140077800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:140055600-140067400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:140055600-140079200	Weak transcription	Fetal Kidney	kidney
41	chr7:140055800-140060600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:140056600-140061200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:140056800-140077400	Weak transcription	NH-A	brain
44	chr7:140056800-140079400	Weak transcription	Colonic Mucosa	Colon
45	chr7:140057200-140067400	Weak transcription	HSMMtube	muscle
46	chr7:140057400-140075400	Weak transcription	Osteobl	bone
47	chr7:140057600-140063600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:140057800-140061200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:140057800-140061200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr7:140058200-140061000	Strong transcription	Fetal Intestine Large	intestine

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