Variant report

Variant	esv3435723
Chromosome Location	chr15:50726264-50726860
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:50645858..50649453-chr15:50724154..50728653,8	MCF-7	breast:
2	chr15:50643521..50646507-chr15:50725022..50727342,2	K562	blood:
3	chr15:50724845..50726348-chr15:50728716..50731551,2	K562	blood:
4	chr15:50720179..50722555-chr15:50725678..50727249,2	K562	blood:
5	chr15:50723798..50726345-chr15:50728569..50731890,3	K562	blood:
6	chr15:50722111..50724642-chr15:50725958..50727736,2	K562	blood:
7	chr15:50645071..50649193-chr15:50720953..50727690,12	MCF-7	breast:
8	chr15:50716353..50719230-chr15:50725836..50728132,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPM7-1	chr15:50726371-50726430	ENSG00000250395

No data

Variant related genes	Relation type
ENSG00000104064	chromatin interactions
ENSG00000244879	chromatin interactions
ENSG00000138592	chromatin interactions
ZFHX4	miRNA target sites

Extended variants
information (count: 25 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557268143	chr15:50726296-50726297	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs139482198	chr15:50726301-50726302	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs374379288	chr15:50726302-50726303	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs139859009	chr15:50726334-50726335	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539125904	chr15:50726344-50726345	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs11070775	chr15:50726384-50726385	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs572470915	chr15:50726415-50726416	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs577817802	chr15:50726441-50726442	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs560463051	chr15:50726457-50726458	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs561973249	chr15:50726465-50726466	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145377993	chr15:50726477-50726478	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs147635080	chr15:50726496-50726497	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140893062	chr15:50726497-50726498	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs533189893	chr15:50726525-50726526	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs190443868	chr15:50726559-50726560	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs182151855	chr15:50726595-50726596	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528454507	chr15:50726628-50726629	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs377754623	chr15:50726632-50726633	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs546681351	chr15:50726637-50726638	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs538807876	chr15:50726666-50726667	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs568487194	chr15:50726677-50726678	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs554333730	chr15:50726738-50726739	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs114633178	chr15:50726776-50726777	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs551286517	chr15:50726804-50726805	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs569326327	chr15:50726837-50726838	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Myelofibrosis	22110671	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	21364760	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50717000-50726800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
3	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
5	chr15:50717800-50731200	Weak transcription	Fetal Brain Female	brain
6	chr15:50717800-50731200	Weak transcription	Fetal Kidney	kidney
7	chr15:50717800-50731600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:50717800-50731600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:50717800-50732000	Weak transcription	Small Intestine	intestine
10	chr15:50717800-50732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr15:50717800-50732200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:50717800-50732200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr15:50717800-50732200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:50717800-50732200	Weak transcription	HSMMtube	muscle
15	chr15:50717800-50732200	Weak transcription	NHLF	lung
16	chr15:50717800-50732400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:50718000-50731200	Weak transcription	Brain Anterior Caudate	brain
20	chr15:50718000-50732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:50718000-50734600	Weak transcription	Brain Substantia Nigra	brain
22	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr15:50718200-50730800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr15:50718200-50731400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:50718200-50731400	Weak transcription	Fetal Thymus	thymus
27	chr15:50718200-50731600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:50718200-50731600	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:50718200-50732200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
31	chr15:50718800-50728000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr15:50718800-50731200	Weak transcription	Adipose Nuclei	Adipose
33	chr15:50718800-50732200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:50718800-50732200	Weak transcription	HUVEC	blood vessel
35	chr15:50719000-50734400	Weak transcription	Brain Hippocampus Middle	brain
36	chr15:50719200-50732200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr15:50719400-50731800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:50719600-50729800	Weak transcription	K562	blood
39	chr15:50719600-50730600	Weak transcription	HSMM	muscle
40	chr15:50719600-50732400	Weak transcription	Brain Angular Gyrus	brain
41	chr15:50719600-50732400	Weak transcription	Fetal Brain Male	brain
42	chr15:50720600-50730400	Weak transcription	Fetal Stomach	stomach
43	chr15:50721200-50732200	Weak transcription	HMEC	breast
44	chr15:50721400-50728000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:50721400-50731600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:50721400-50732200	Weak transcription	Ovary	ovary
47	chr15:50721400-50732600	Weak transcription	GM12878-XiMat	blood
48	chr15:50721800-50732200	Weak transcription	Brain Germinal Matrix	brain
49	chr15:50721800-50732400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus

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