Variant report

Variant	esv3355666
Chromosome Location	chr7:106810341-106812889
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:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:106682031..106689663-chr7:106807150..106811711,11	K562	blood:
2	chr7:106412910..106417257-chr7:106805514..106810432,10	K562	blood:
3	chr10:98591162..98592122-chr7:106809872..106810661,2	Hela-S3	cervix:
4	chr1:203691216..203693456-chr7:106809047..106812033,2	MCF-7	breast:
5	chr7:106806204..106812770-chr7:106813358..106822449,17	MCF-7	breast:
6	chr7:106417984..106420983-chr7:106808431..106810561,2	K562	blood:
7	chr7:106811171..106813600-chr7:106828376..106831350,2	MCF-7	breast:
8	chr7:106806529..106812770-chr7:107382455..107386610,12	K562	blood:
9	chr11:67141283..67141790-chr7:106809496..106810341,2	Hela-S3	cervix:
10	chr7:106413235..106416729-chr7:106808294..106812162,5	K562	blood:
11	chr7:106682746..106686911-chr7:106807556..106811745,9	K562	blood:
12	chr7:106808633..106810586-chr7:107202578..107204934,3	K562	blood:
13	chr7:106812872..106815212-chr7:106848283..106850029,2	K562	blood:
14	chr7:106808413..106811737-chr7:107382761..107387306,8	K562	blood:
15	chr7:106297795..106302661-chr7:106807374..106810787,5	K562	blood:
16	chr7:106808400..106812418-chr7:106824330..106827302,6	K562	blood:
17	chr7:106683838..106685682-chr7:106808625..106810626,2	MCF-7	breast:
18	chr7:106417564..106419367-chr7:106809462..106810979,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAR2B-1	chr7:106810212-106810575	NONHSAT122672

No data

Variant related genes	Relation type
ENSG00000241764	chromatin interactions
ENSG00000164597	chromatin interactions
ENSG00000253276	chromatin interactions
ENSG00000058668	chromatin interactions
ENSG00000105865	chromatin interactions
ENSG00000005249	chromatin interactions
ENSG00000196233	chromatin interactions
ENSG00000105879	chromatin interactions
ENSG00000177820	chromatin interactions
ENSG00000105856	chromatin interactions
ENSG00000228742	chromatin interactions
ENSG00000175505	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556886113	chr7:106810368-106810369	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
2	rs576933466	chr7:106810370-106810371	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
3	rs77987078	chr7:106810388-106810389	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
4	rs559197401	chr7:106810398-106810399	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
5	rs56867358	chr7:106810492-106810493	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184121265	chr7:106810493-106810494	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
7	rs561492140	chr7:106810497-106810498	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
8	rs530525368	chr7:106810505-106810506	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
9	rs550611317	chr7:106810506-106810507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
10	rs367701987	chr7:106810511-106810512	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
11	rs569339614	chr7:106810546-106810547	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
12	rs533544757	chr7:106810551-106810552	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
13	rs547345937	chr7:106810566-106810567	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
14	rs141476498	chr7:106810667-106810668	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs368834530	chr7:106810732-106810733	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs549400125	chr7:106810748-106810749	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs569190257	chr7:106810782-106810783	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs537968946	chr7:106810822-106810823	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs558204406	chr7:106810823-106810824	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs189502376	chr7:106810850-106810851	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs539602517	chr7:106810860-106810861	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs552888107	chr7:106810870-106810871	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs368307368	chr7:106810871-106810872	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs369532725	chr7:106810880-106810881	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs199976745	chr7:106810930-106810931	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs12536574	chr7:106810997-106810998	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs554954591	chr7:106811051-106811052	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs114546529	chr7:106811057-106811058	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs117122017	chr7:106811113-106811114	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs552758823	chr7:106811119-106811120	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs564187377	chr7:106811128-106811129	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs533396430	chr7:106811171-106811172	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs540820620	chr7:106811191-106811192	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs113878583	chr7:106811222-106811223	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs544922894	chr7:106811234-106811235	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs532279499	chr7:106811257-106811258	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs117910657	chr7:106811334-106811335	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs11762152	chr7:106811374-106811375	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs181844616	chr7:106811385-106811386	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs575228494	chr7:106811404-106811405	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs201365186	chr7:106811419-106811420	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs185991750	chr7:106811421-106811422	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs188845544	chr7:106811427-106811428	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs112670683	chr7:106811433-106811434	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs201273037	chr7:106811443-106811444	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs570599017	chr7:106811448-106811449	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs137879642	chr7:106811479-106811480	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs202231407	chr7:106811512-106811513	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs372071400	chr7:106811514-106811515	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs200282873	chr7:106811516-106811517	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:477 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106807000-106811400	Active TSS	NHLF	lung
2	chr7:106807200-106811000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:106807200-106811000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:106807400-106810600	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr7:106807400-106810600	Active TSS	NHEK	skin
6	chr7:106807400-106811000	Active TSS	A549	lung
7	chr7:106807400-106811200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:106807400-106811200	Active TSS	Fetal Intestine Large	intestine
9	chr7:106807400-106811400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:106807600-106810400	Active TSS	Fetal Lung	lung
11	chr7:106807600-106810600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:106807600-106810600	Active TSS	Liver	Liver
13	chr7:106807600-106810600	Active TSS	Duodenum Mucosa	Duodenum
14	chr7:106807600-106810600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:106807600-106810800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:106807600-106810800	Active TSS	Brain Anterior Caudate	brain
17	chr7:106807600-106810800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
18	chr7:106807600-106810800	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr7:106807600-106810800	Active TSS	Fetal Muscle Leg	muscle
20	chr7:106807600-106810800	Active TSS	Fetal Stomach	stomach
21	chr7:106807600-106810800	Active TSS	Hela-S3	cervix
22	chr7:106807600-106811000	Active TSS	HMEC	breast
23	chr7:106807600-106811200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:106807600-106811200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr7:106807600-106811200	Active TSS	Fetal Kidney	kidney
26	chr7:106807600-106811200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr7:106807600-106811400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:106807600-106811400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:106807600-106811400	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:106807600-106811400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:106807600-106811400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr7:106807600-106811400	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr7:106807600-106811400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr7:106807600-106811400	Active TSS	NHDF-Ad	bronchial
35	chr7:106807600-106812000	Active TSS	K562	blood
36	chr7:106807800-106810600	Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr7:106807800-106810600	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr7:106807800-106810600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:106807800-106810800	Active TSS	Brain Cingulate Gyrus	brain
40	chr7:106807800-106810800	Active TSS	Brain Substantia Nigra	brain
41	chr7:106807800-106810800	Active TSS	Fetal Intestine Small	intestine
42	chr7:106807800-106810800	Active TSS	Placenta Amnion	Placenta Amnion
43	chr7:106807800-106810800	Active TSS	Rectal Smooth Muscle	rectum
44	chr7:106807800-106810800	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr7:106807800-106810800	Active TSS	HSMM	muscle
46	chr7:106807800-106811000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:106807800-106811000	Active TSS	Brain Hippocampus Middle	brain
48	chr7:106807800-106811000	Active TSS	Fetal Muscle Trunk	muscle
49	chr7:106807800-106811200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:106807800-106811200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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