Variant report

Variant	esv3436809
Chromosome Location	chr10:61640046-61644344
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:61639233..61641192-chr10:61644964..61647007,2	MCF-7	breast:
2	chr10:61641674..61643594-chr10:61648088..61650811,2	K562	blood:
3	chr10:61638398..61641573-chr10:61642787..61646612,4	K562	blood:
4	chr10:61640293..61643125-chr10:61664795..61666558,2	MCF-7	breast:
5	chr10:61635533..61637804-chr10:61638300..61641205,3	K562	blood:
6	chr10:61632537..61634435-chr10:61640656..61642857,2	MCF-7	breast:
7	chr10:61636740..61643413-chr10:61643807..61649213,6	K562	blood:
8	chr10:61628363..61632189-chr10:61637394..61643761,6	K562	blood:
9	chr10:61639063..61643015-chr10:61647185..61650219,3	MCF-7	breast:
10	chr10:61643704..61646293-chr10:61656724..61658823,2	MCF-7	breast:
11	chr10:61643762..61645786-chr10:61664123..61666003,2	MCF-7	breast:
12	chr10:61642094..61644181-chr10:61649311..61651720,2	K562	blood:
13	chr10:61638398..61641573-chr10:61642787..61646612,4	K562	blood:
14	chr10:61636740..61643413-chr10:61643807..61649213,6	K562	blood:
15	chr10:61633677..61637740-chr10:61638115..61642166,4	K562	blood:
16	chr10:61638896..61642309-chr10:61665188..61667493,3	K562	blood:
17	chr10:61636496..61638711-chr10:61641760..61644230,2	MCF-7	breast:
18	chr10:61641536..61643091-chr10:61645394..61647753,2	MCF-7	breast:
19	chr10:61595408..61597026-chr10:61643896..61645826,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108091	chromatin interactions

Extended variants
information (count: 215 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533175903	chr10:61640058-61640059	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551426001	chr10:61640085-61640086	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs566859372	chr10:61640096-61640097	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534353062	chr10:61640098-61640099	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149285288	chr10:61640123-61640124	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567935879	chr10:61640131-61640132	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs116258155	chr10:61640157-61640158	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372388167	chr10:61640164-61640165	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189090725	chr10:61640174-61640175	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs577680621	chr10:61640191-61640192	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182444633	chr10:61640203-61640204	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs7097246	chr10:61640243-61640244	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs572093024	chr10:61640263-61640264	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs187068898	chr10:61640270-61640271	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190250895	chr10:61640294-61640295	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554502271	chr10:61640308-61640309	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1626088	chr10:61640320-61640321	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs114501906	chr10:61640331-61640332	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543716914	chr10:61640336-61640337	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377635874	chr10:61640344-61640345	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533113607	chr10:61640347-61640348	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545002624	chr10:61640414-61640415	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375630575	chr10:61640502-61640503	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs560628913	chr10:61640522-61640523	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2440910	chr10:61640523-61640524	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs549535922	chr10:61640542-61640543	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567734541	chr10:61640553-61640554	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529292962	chr10:61640557-61640558	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs181468463	chr10:61640566-61640567	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs373587545	chr10:61640606-61640607	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
31	rs550458363	chr10:61640645-61640646	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
32	rs571975292	chr10:61640675-61640676	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
33	rs143522041	chr10:61640740-61640741	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
34	rs553844241	chr10:61640759-61640760	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
35	rs2450471	chr10:61640762-61640763	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61583200-61640600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:61624800-61641000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:61625000-61655400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:61630000-61647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:61633000-61640600	Weak transcription	Gastric	stomach
6	chr10:61633200-61640600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:61633200-61641800	Weak transcription	Lung	lung
8	chr10:61633400-61643200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr10:61633400-61645200	Weak transcription	Fetal Thymus	thymus
10	chr10:61633400-61647800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:61633400-61647800	Weak transcription	Fetal Muscle Leg	muscle
12	chr10:61633400-61647800	Weak transcription	Fetal Stomach	stomach
13	chr10:61633400-61648600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr10:61633600-61645200	Weak transcription	Brain Germinal Matrix	brain
15	chr10:61634000-61640400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr10:61634000-61645000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr10:61634000-61645600	Weak transcription	Fetal Lung	lung
18	chr10:61634000-61646800	Weak transcription	Adipose Nuclei	Adipose
19	chr10:61634400-61640200	Enhancers	Colon Smooth Muscle	Colon
20	chr10:61634400-61648800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr10:61634400-61649000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:61634400-61651200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr10:61634600-61640600	Weak transcription	Left Ventricle	heart
24	chr10:61634800-61640600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr10:61634800-61645200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr10:61635000-61644000	Weak transcription	Brain Angular Gyrus	brain
27	chr10:61635000-61645400	Weak transcription	Brain Substantia Nigra	brain
28	chr10:61635000-61646800	Weak transcription	Right Ventricle	heart
29	chr10:61635400-61640800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr10:61635600-61640600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr10:61635600-61640600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr10:61635600-61640800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr10:61635600-61640800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:61635600-61647600	Weak transcription	Brain Anterior Caudate	brain
35	chr10:61635800-61640800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr10:61635800-61641000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr10:61635800-61648600	Enhancers	Primary B cells from peripheral blood	blood
38	chr10:61636200-61641800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:61636600-61641800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr10:61636800-61640600	Weak transcription	Fetal Intestine Small	intestine
41	chr10:61637000-61642200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:61637400-61641800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr10:61637400-61641800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr10:61637400-61645400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr10:61637400-61647800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:61637400-61648400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:61637600-61640400	Weak transcription	Primary B cells from cord blood	blood
48	chr10:61637600-61645200	Weak transcription	Right Atrium	heart
49	chr10:61637600-61653600	Weak transcription	NHDF-Ad	bronchial
50	chr10:61637800-61640200	Weak transcription	NHEK	skin

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