Variant report

Variant	esv3411957
Chromosome Location	chr16:71509290-71510579
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:0)
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	chr16:71508246..71511064-chr16:71516547..71519494,2	K562	blood:
2	chr16:71494025..71497980-chr16:71506815..71510228,4	K562	blood:
3	chr16:71501449..71503485-chr16:71506644..71509669,3	MCF-7	breast:
4	chr16:71504762..71507236-chr16:71509593..71512439,2	K562	blood:
5	chr16:71510034..71511585-chr16:71514178..71515681,2	MCF-7	breast:
6	chr16:71507450..71511299-chr16:71511883..71513820,5	K562	blood:
7	chr16:71508758..71510611-chr16:71516213..71518587,2	MCF-7	breast:
8	chr16:71508819..71510748-chr16:71511995..71514492,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247324	chromatin interactions
ENSG00000167377	chromatin interactions
ENSG00000157429	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145348244	chr16:71509308-71509309	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs371449007	chr16:71509334-71509335	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs200992094	chr16:71509359-71509360	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs377586170	chr16:71509368-71509369	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs184642580	chr16:71509369-71509370	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs577515533	chr16:71509430-71509431	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs189429998	chr16:71509479-71509480	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs145033718	chr16:71509488-71509489	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs527840271	chr16:71509489-71509490	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs192088020	chr16:71509491-71509492	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs55802324	chr16:71509500-71509501	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs137874422	chr16:71509503-71509504	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs371975799	chr16:71509531-71509532	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs149461299	chr16:71509582-71509583	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs2288487	chr16:71509588-71509589	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201660319	chr16:71509615-71509616	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs2288488	chr16:71509634-71509635	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141601110	chr16:71509641-71509642	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs372256168	chr16:71509666-71509667	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200860470	chr16:71509675-71509676	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs2288489	chr16:71509685-71509686	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs140092802	chr16:71509694-71509695	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs375143736	chr16:71509697-71509698	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs369556832	chr16:71509711-71509712	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs571914805	chr16:71509737-71509738	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145400322	chr16:71509739-71509740	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs147699542	chr16:71509759-71509760	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs10500557	chr16:71509779-71509780	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575955916	chr16:71509780-71509781	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs8050871	chr16:71509796-71509797	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs199702128	chr16:71509804-71509805	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs201608341	chr16:71509812-71509813	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs199884411	chr16:71509834-71509835	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs369036617	chr16:71509837-71509838	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs562940678	chr16:71509839-71509840	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs145725096	chr16:71509842-71509843	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs377052556	chr16:71509853-71509854	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs370498796	chr16:71509878-71509879	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs368490940	chr16:71509899-71509900	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs371577988	chr16:71509900-71509901	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs200632530	chr16:71509901-71509902	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs199580690	chr16:71509906-71509907	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs542310581	chr16:71509923-71509924	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs149111762	chr16:71509950-71509951	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs190278786	chr16:71509962-71509963	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs147578256	chr16:71509976-71509977	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs552689733	chr16:71509990-71509991	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs77495348	chr16:71510045-71510046	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369935076	chr16:71510065-71510066	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs146711122	chr16:71510160-71510161	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71496400-71509400	Weak transcription	Small Intestine	intestine
2	chr16:71496600-71509400	Weak transcription	Colonic Mucosa	Colon
3	chr16:71496600-71509400	Weak transcription	Esophagus	oesophagus
4	chr16:71496600-71509400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:71496600-71511400	Weak transcription	Pancreas	Pancrea
6	chr16:71496800-71509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:71496800-71509400	Weak transcription	Psoas Muscle	Psoas
8	chr16:71496800-71512000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr16:71496800-71512200	Weak transcription	Fetal Intestine Small	intestine
10	chr16:71497000-71511800	Weak transcription	Brain Substantia Nigra	brain
11	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
13	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr16:71497200-71509400	Weak transcription	Colon Smooth Muscle	Colon
15	chr16:71497200-71509400	Weak transcription	Lung	lung
16	chr16:71497400-71509600	Weak transcription	Gastric	stomach
17	chr16:71497400-71509800	Weak transcription	Spleen	Spleen
18	chr16:71502800-71517400	Weak transcription	Dnd41	blood
19	chr16:71503800-71509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr16:71504000-71509400	Weak transcription	Fetal Lung	lung
21	chr16:71504400-71509800	Weak transcription	Fetal Kidney	kidney
22	chr16:71504400-71512800	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr16:71504600-71513600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr16:71504800-71512800	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr16:71504800-71513000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:71505000-71513000	Strong transcription	Adipose Nuclei	Adipose
27	chr16:71505600-71509800	Weak transcription	GM12878-XiMat	blood
28	chr16:71505800-71509800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr16:71506000-71509400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr16:71506400-71509400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:71506400-71517400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:71507200-71509400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr16:71507200-71509600	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:71507200-71510000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr16:71507200-71514800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr16:71507200-71517800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:71507400-71517800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr16:71507600-71509400	Enhancers	HMEC	breast
39	chr16:71507600-71509600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr16:71507600-71512800	Strong transcription	Ovary	ovary
41	chr16:71507600-71513000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr16:71507600-71517400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr16:71507600-71517400	Weak transcription	Fetal Brain Male	brain
44	chr16:71507800-71509400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr16:71507800-71509400	Enhancers	HSMM	muscle
46	chr16:71507800-71509400	Enhancers	NH-A	brain
47	chr16:71507800-71509400	Enhancers	NHEK	skin
48	chr16:71507800-71509400	Enhancers	NHLF	lung
49	chr16:71507800-71509600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:71507800-71509600	Enhancers	HSMMtube	muscle

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