Variant report

Variant	nsv522377
Chromosome Location	chr22:31232074-31249333
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:7)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31243791..31245412-chr22:31253672..31256653,2	K562	blood:
2	chr22:31245927..31247645-chr22:31251008..31252966,2	K562	blood:
3	chr22:31243631..31245647-chr22:31247241..31249117,2	K562	blood:
4	chr22:31217791..31219703-chr22:31241137..31243710,2	MCF-7	breast:
5	chr22:31224247..31227135-chr22:31248254..31250701,2	MCF-7	breast:
6	chr22:31243631..31245647-chr22:31247241..31249117,2	K562	blood:
7	chr22:31227706..31229647-chr22:31232434..31234862,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC35E4-2	chr22:31238640-31238697	NONHSAT084810
2	lnc-SLC35E4-2	chr22:31240470-31240674	NONHSAT084810

No data

Variant related genes	Relation type
ENSG00000184792	chromatin interactions

Extended variants
information (count: 519 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs136217	chr22:31232074-31232075	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs79849508	chr22:31232080-31232081	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188953925	chr22:31232140-31232141	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60486108	chr22:31232146-31232147	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs577252888	chr22:31232149-31232150	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs5997778	chr22:31232216-31232217	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557711030	chr22:31232222-31232223	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs193116609	chr22:31232227-31232228	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540486625	chr22:31232242-31232243	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560468122	chr22:31232291-31232292	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184481642	chr22:31232345-31232346	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543066457	chr22:31232365-31232366	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74770616	chr22:31232389-31232390	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs531746398	chr22:31232405-31232406	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114327642	chr22:31232424-31232425	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4311146	chr22:31232451-31232452	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571793864	chr22:31232477-31232478	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527880144	chr22:31232488-31232489	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547641337	chr22:31232521-31232522	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145977568	chr22:31232532-31232533	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545908715	chr22:31232603-31232604	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548739088	chr22:31232646-31232647	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187605363	chr22:31232693-31232694	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537593407	chr22:31232698-31232699	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559720757	chr22:31232716-31232717	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577872021	chr22:31232758-31232759	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9621108	chr22:31232763-31232764	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35157631	chr22:31232858-31232859	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs9621109	chr22:31232864-31232865	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533994709	chr22:31232899-31232900	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148245754	chr22:31232922-31232923	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9621110	chr22:31232989-31232990	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372108247	chr22:31233028-31233029	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528917960	chr22:31233058-31233059	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532042404	chr22:31233073-31233074	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542991506	chr22:31233112-31233113	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs376503625	chr22:31233130-31233131	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12160811	chr22:31233136-31233137	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191762781	chr22:31233152-31233153	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576477174	chr22:31233164-31233165	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78481530	chr22:31233166-31233167	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs136216	chr22:31233220-31233221	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34674333	chr22:31233248-31233249	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553567607	chr22:31233249-31233250	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199578179	chr22:31233266-31233267	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559658143	chr22:31233323-31233324	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528409550	chr22:31233328-31233329	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs5753341	chr22:31233347-31233348	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs73402291	chr22:31233365-31233366	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547603998	chr22:31233370-31233371	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20858604	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31226800-31233200	Weak transcription	Fetal Brain Male	brain
2	chr22:31227200-31232600	Weak transcription	Brain Angular Gyrus	brain
3	chr22:31227400-31232400	Weak transcription	Brain Anterior Caudate	brain
4	chr22:31227400-31233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr22:31227600-31232200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr22:31227600-31232200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr22:31227600-31232400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr22:31227800-31233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr22:31228000-31233600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr22:31228200-31232200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:31228200-31233600	Weak transcription	HMEC	breast
12	chr22:31228200-31233600	Weak transcription	NHDF-Ad	bronchial
13	chr22:31229400-31238800	Weak transcription	HSMM	muscle
14	chr22:31229600-31232200	Weak transcription	A549	lung
15	chr22:31229800-31233000	Genic enhancers	Hela-S3	cervix
16	chr22:31231400-31232400	Enhancers	NHEK	skin
17	chr22:31231800-31234400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr22:31232200-31232600	Enhancers	A549	lung
19	chr22:31232200-31233000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:31232200-31233600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr22:31232200-31233800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr22:31232400-31232800	Enhancers	Brain Anterior Caudate	brain
23	chr22:31232400-31234400	Enhancers	Brain Cingulate Gyrus	brain
24	chr22:31232400-31234600	Enhancers	Placenta	Placenta
25	chr22:31232400-31234600	Genic enhancers	NHEK	skin
26	chr22:31232600-31233400	Weak transcription	A549	lung
27	chr22:31232600-31234400	Enhancers	Brain Angular Gyrus	brain
28	chr22:31232800-31236400	Weak transcription	Brain Anterior Caudate	brain
29	chr22:31233000-31233400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr22:31233000-31233600	Weak transcription	Hela-S3	cervix
31	chr22:31233200-31233800	Enhancers	Fetal Brain Male	brain
32	chr22:31233400-31233800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr22:31233400-31233800	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr22:31233400-31234000	ZNF genes & repeats	A549	lung
35	chr22:31233400-31234200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr22:31233400-31234200	Enhancers	Esophagus	oesophagus
37	chr22:31233600-31233800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr22:31233600-31234400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:31233600-31234400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr22:31233600-31234400	Enhancers	HMEC	breast
41	chr22:31233600-31234600	ZNF genes & repeats	Hela-S3	cervix
42	chr22:31233600-31234600	Enhancers	NHDF-Ad	bronchial
43	chr22:31233800-31237400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr22:31234000-31236400	Weak transcription	A549	lung
45	chr22:31234200-31236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr22:31234200-31237800	Weak transcription	Esophagus	oesophagus
47	chr22:31234400-31236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:31234400-31236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:31234400-31236400	Weak transcription	HMEC	breast
50	chr22:31234400-31237400	Weak transcription	Brain Angular Gyrus	brain

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