Variant report

Variant	nsv1005983
Chromosome Location	chr1:212917531-212947521
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212943211..212944907-chr1:212962343..212965206,2	K562	blood:
2	chr1:212924762..212928442-chr1:212932501..212935953,4	K562	blood:
3	chr1:212922257..212926037-chr1:212961956..212967117,4	K562	blood:
4	chr1:212918201..212920383-chr1:212921958..212924085,2	K562	blood:
5	chr1:212903656..212906475-chr1:212923448..212926257,3	K562	blood:
6	chr1:212946670..212949968-chr1:212963213..212965983,4	K562	blood:
7	chr1:212923248..212923805-chr1:212955689..212956237,2	MCF-7	breast:
8	chr1:212924762..212928442-chr1:212932501..212935953,4	K562	blood:
9	chr1:212901776..212903317-chr1:212916896..212919361,2	MCF-7	breast:
10	chr1:212918201..212920383-chr1:212921958..212924085,2	K562	blood:
11	chr1:212923025..212923977-chr1:213088635..213089225,2	K562	blood:
12	chr1:212867492..212870204-chr1:212923902..212926371,2	K562	blood:
13	chr1:212838261..212839032-chr1:212933431..212934161,2	MCF-7	breast:
14	chr1:212926276..212926792-chr1:213168366..213168980,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117697	chromatin interactions
ENSG00000237980	chromatin interactions
ENSG00000203705	chromatin interactions

Extended variants
information (count: 1125 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1125 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191798707	chr1:212917535-212917536	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573118051	chr1:212917545-212917546	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs368046505	chr1:212917613-212917614	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7550288	chr1:212917678-212917679	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs7527216	chr1:212917683-212917684	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs146851993	chr1:212917693-212917694	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545396328	chr1:212917730-212917731	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77602892	chr1:212917764-212917765	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565412315	chr1:212917768-212917769	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34889984	chr1:212917801-212917802	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575579018	chr1:212917826-212917827	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375426764	chr1:212917915-212917916	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542954223	chr1:212917931-212917932	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148943913	chr1:212917969-212917970	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369403691	chr1:212917979-212917980	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12125867	chr1:212917980-212917981	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs565443829	chr1:212918081-212918082	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540099915	chr1:212918082-212918083	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532129472	chr1:212918183-212918184	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550631627	chr1:212918192-212918193	Weak transcription ZNF genes & repeats Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111259341	chr1:212918303-212918304	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs536246561	chr1:212918308-212918309	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs548551015	chr1:212918311-212918312	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs113688733	chr1:212918338-212918339	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
25	rs113773507	chr1:212918347-212918348	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs112389998	chr1:212918365-212918366	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
27	rs376131141	chr1:212918410-212918411	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs182343104	chr1:212918452-212918453	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs199710490	chr1:212918503-212918504	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs200712810	chr1:212918505-212918506	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs201890155	chr1:212918506-212918507	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs557417650	chr1:212918514-212918515	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs575596305	chr1:212918515-212918516	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs374002973	chr1:212918516-212918517	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377757953	chr1:212918517-212918518	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs143426334	chr1:212918520-212918521	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs573216985	chr1:212918522-212918523	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs540497499	chr1:212918523-212918524	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565365982	chr1:212918524-212918525	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532727507	chr1:212918525-212918526	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs59293969	chr1:212918542-212918543	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs369896618	chr1:212918546-212918547	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs373410948	chr1:212918547-212918548	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs544019166	chr1:212918552-212918553	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562602747	chr1:212918571-212918572	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs113901315	chr1:212918700-212918701	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs531235331	chr1:212918747-212918748	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs73081830	chr1:212918756-212918757	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs527608221	chr1:212918775-212918776	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs201096622	chr1:212918806-212918807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1003 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212895200-212922800	Weak transcription	Left Ventricle	heart
2	chr1:212895400-212923200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:212895400-212923400	Weak transcription	Fetal Muscle Leg	muscle
4	chr1:212895400-212923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr1:212895400-212926400	Weak transcription	Esophagus	oesophagus
6	chr1:212895400-212964600	Weak transcription	Pancreas	Pancrea
7	chr1:212895600-212923000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:212895600-212923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:212895600-212964600	Weak transcription	Gastric	stomach
10	chr1:212895800-212925600	Weak transcription	Small Intestine	intestine
11	chr1:212895800-212926200	Weak transcription	Hela-S3	cervix
12	chr1:212898600-212923200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:212898800-212934000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:212899800-212926400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:212900400-212923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:212900400-212927600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:212900400-212932600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:212900400-212936200	Weak transcription	Aorta	Aorta
19	chr1:212901400-212954000	Weak transcription	NH-A	brain
20	chr1:212901600-212923000	Weak transcription	HSMM	muscle
21	chr1:212902200-212941800	Weak transcription	Fetal Kidney	kidney
22	chr1:212902600-212943600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:212903000-212923400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:212903200-212918000	Weak transcription	Fetal Intestine Large	intestine
25	chr1:212903200-212923400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:212903600-212926400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr1:212904200-212923200	Weak transcription	Adipose Nuclei	Adipose
28	chr1:212904800-212926200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:212905200-212923200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:212905200-212923400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:212905600-212923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:212906200-212923400	Weak transcription	HMEC	breast
33	chr1:212906800-212923400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr1:212908000-212933200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:212909400-212923200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:212911000-212922800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:212911600-212923000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:212911800-212918600	Weak transcription	Fetal Lung	lung
39	chr1:212912000-212923200	Weak transcription	Liver	Liver
40	chr1:212912000-212935800	Weak transcription	K562	blood
41	chr1:212912200-212925800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:212912600-212917800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:212913000-212923000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:212913600-212923200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:212913600-212923400	Weak transcription	NHEK	skin
46	chr1:212914800-212923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:212915000-212925800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:212915200-212920400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:212915200-212923400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:212915400-212918800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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