Variant report

Variant	esv3345456
Chromosome Location	chr10:61640771-61643719
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:61639063..61643015-chr10:61647185..61650219,3	MCF-7	breast:
2	chr10:61636496..61638711-chr10:61641760..61644230,2	MCF-7	breast:
3	chr10:61638896..61642309-chr10:61665188..61667493,3	K562	blood:
4	chr10:61638398..61641573-chr10:61642787..61646612,4	K562	blood:
5	chr10:61638398..61641573-chr10:61642787..61646612,4	K562	blood:
6	chr10:61639233..61641192-chr10:61644964..61647007,2	MCF-7	breast:
7	chr10:61633677..61637740-chr10:61638115..61642166,4	K562	blood:
8	chr10:61636740..61643413-chr10:61643807..61649213,6	K562	blood:
9	chr10:61635533..61637804-chr10:61638300..61641205,3	K562	blood:
10	chr10:61641674..61643594-chr10:61648088..61650811,2	K562	blood:
11	chr10:61628363..61632189-chr10:61637394..61643761,6	K562	blood:
12	chr10:61642094..61644181-chr10:61649311..61651720,2	K562	blood:
13	chr10:61641536..61643091-chr10:61645394..61647753,2	MCF-7	breast:
14	chr10:61643704..61646293-chr10:61656724..61658823,2	MCF-7	breast:
15	chr10:61640293..61643125-chr10:61664795..61666558,2	MCF-7	breast:
16	chr10:61632537..61634435-chr10:61640656..61642857,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108091	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs2440911	chr10:61640771-61640772	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116657209	chr10:61640776-61640777	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148004831	chr10:61640818-61640819	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113072279	chr10:61640823-61640824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111907656	chr10:61640827-61640828	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368494562	chr10:61640832-61640833	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558381951	chr10:61640869-61640870	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141648590	chr10:61640898-61640899	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147134767	chr10:61640943-61640944	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186046833	chr10:61640967-61640968	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75407573	chr10:61640980-61640981	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs77777158	chr10:61640981-61640982	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527708672	chr10:61641023-61641024	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs542724226	chr10:61641054-61641055	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190421285	chr10:61641076-61641077	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs531894441	chr10:61641114-61641115	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs140268570	chr10:61641184-61641185	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571961477	chr10:61641202-61641203	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182588288	chr10:61641222-61641223	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs547347314	chr10:61641223-61641224	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565511150	chr10:61641235-61641236	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144113884	chr10:61641251-61641252	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs147315699	chr10:61641302-61641303	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552397032	chr10:61641336-61641337	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs113404589	chr10:61641364-61641365	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573500735	chr10:61641372-61641373	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139886628	chr10:61641387-61641388	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs534579338	chr10:61641392-61641393	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112186583	chr10:61641445-61641446	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572311905	chr10:61641464-61641465	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs531595061	chr10:61641471-61641472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543013978	chr10:61641510-61641511	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561222691	chr10:61641592-61641593	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs576650948	chr10:61641609-61641610	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369170160	chr10:61641652-61641653	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542421654	chr10:61641656-61641657	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562244611	chr10:61641657-61641658	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532774947	chr10:61641682-61641683	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199594834	chr10:61641761-61641762	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371094304	chr10:61641762-61641763	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs374587336	chr10:61641782-61641783	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs71185290	chr10:61641783-61641784	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs28712465	chr10:61641784-61641785	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs28489380	chr10:61641785-61641786	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529610459	chr10:61641787-61641788	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs148549745	chr10:61641806-61641807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs28707007	chr10:61641808-61641809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs370086809	chr10:61641828-61641829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs368170226	chr10:61641829-61641830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs71185291	chr10:61641830-61641831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Urothelial carcinoma	21177765	CNVD
abnormal development	18461090	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Epilepsy	20643615	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61624800-61641000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:61625000-61655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:61630000-61647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:61633200-61641800	Weak transcription	Lung	lung
5	chr10:61633400-61643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr10:61633400-61645200	Weak transcription	Fetal Thymus	thymus
7	chr10:61633400-61647800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:61633400-61647800	Weak transcription	Fetal Muscle Leg	muscle
9	chr10:61633400-61647800	Weak transcription	Fetal Stomach	stomach
10	chr10:61633400-61648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:61633600-61645200	Weak transcription	Brain Germinal Matrix	brain
12	chr10:61634000-61645000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr10:61634000-61645600	Weak transcription	Fetal Lung	lung
14	chr10:61634000-61646800	Weak transcription	Adipose Nuclei	Adipose
15	chr10:61634400-61648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:61634400-61649000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr10:61634400-61651200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr10:61634800-61645200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:61635000-61644000	Weak transcription	Brain Angular Gyrus	brain
20	chr10:61635000-61645400	Weak transcription	Brain Substantia Nigra	brain
21	chr10:61635000-61646800	Weak transcription	Right Ventricle	heart
22	chr10:61635400-61640800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:61635600-61640800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:61635600-61640800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr10:61635600-61647600	Weak transcription	Brain Anterior Caudate	brain
26	chr10:61635800-61640800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr10:61635800-61641000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:61635800-61648600	Enhancers	Primary B cells from peripheral blood	blood
29	chr10:61636200-61641800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:61636600-61641800	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr10:61637000-61642200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:61637400-61641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr10:61637400-61641800	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr10:61637400-61645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:61637400-61647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr10:61637400-61648400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:61637600-61645200	Weak transcription	Right Atrium	heart
38	chr10:61637600-61653600	Weak transcription	NHDF-Ad	bronchial
39	chr10:61637800-61645800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:61637800-61648800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr10:61637800-61649200	Weak transcription	HMEC	breast
42	chr10:61637800-61653600	Weak transcription	NH-A	brain
43	chr10:61638200-61641800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr10:61638200-61641800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr10:61638200-61641800	Flanking Active TSS	GM12878-XiMat	blood
46	chr10:61638200-61646800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:61638400-61641000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:61638400-61641000	Weak transcription	Fetal Heart	heart
49	chr10:61638400-61641400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr10:61638400-61641600	Enhancers	Primary T cells from cord blood	blood

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