Variant report

Variant	esv3402993
Chromosome Location	chr7:101960482-101962980
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:1)
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	chr7:101958775..101961646-chr7:101962765..101965626,2	K562	blood:
2	chr7:101922927..101925086-chr7:101959740..101962497,2	K562	blood:
3	chr7:101929445..101932504-chr7:101961443..101964470,3	MCF-7	breast:
4	chr7:101937262..101939151-chr7:101958564..101960798,2	MCF-7	breast:
5	chr7:101958775..101961646-chr7:101962765..101965626,2	K562	blood:
6	chr7:101959438..101961127-chr7:101963156..101964801,2	MCF-7	breast:
7	chr7:101962260..101964912-chr7:101971375..101973484,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALKBH4-6	chr7:101962695-101962993	expReg_chr7_6761_-

No data

Extended variants
information (count: 93 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528421922	chr7:101960504-101960505	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs1734771	chr7:101960510-101960511	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs190637013	chr7:101960532-101960533	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs575974879	chr7:101960577-101960578	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs181939318	chr7:101960594-101960595	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs566117789	chr7:101960612-101960613	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs369250948	chr7:101960628-101960629	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs142146832	chr7:101960649-101960650	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs151206877	chr7:101960677-101960678	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs541180350	chr7:101960702-101960703	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs559598635	chr7:101960749-101960750	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs527778135	chr7:101960755-101960756	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs371386728	chr7:101960768-101960769	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs183757869	chr7:101960774-101960775	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs561316353	chr7:101960801-101960802	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368400991	chr7:101960803-101960804	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550166791	chr7:101960804-101960805	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188074751	chr7:101960805-101960806	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371577042	chr7:101960818-101960819	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371436019	chr7:101960819-101960820	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532673440	chr7:101960822-101960823	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374811332	chr7:101960826-101960827	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs367608965	chr7:101960837-101960838	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371725663	chr7:101960843-101960844	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547573732	chr7:101960872-101960873	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374808298	chr7:101960875-101960876	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369810349	chr7:101960888-101960889	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565977635	chr7:101960916-101960917	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372370205	chr7:101960919-101960920	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201895678	chr7:101960923-101960924	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200296075	chr7:101960936-101960937	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372768134	chr7:101960937-101960938	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548012920	chr7:101960960-101960961	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569747278	chr7:101960974-101960975	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531288889	chr7:101960994-101960995	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557342269	chr7:101961001-101961002	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377212746	chr7:101961017-101961018	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77842720	chr7:101961027-101961028	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558526721	chr7:101961053-101961054	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75126175	chr7:101961132-101961133	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs534958578	chr7:101961154-101961155	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553202096	chr7:101961174-101961175	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574714568	chr7:101961231-101961232	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs181314292	chr7:101961339-101961340	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561193895	chr7:101961362-101961363	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185544717	chr7:101961398-101961399	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543409127	chr7:101961409-101961410	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565319574	chr7:101961410-101961411	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs9691648	chr7:101961415-101961416	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs532662232	chr7:101961425-101961426	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Gastric cancer	24379144	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
Prostate cancer	16461572	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
Bladder cancer	21909424	CNVD
Biliary cancer	19435499	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	16608533	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Liver carcinoma	19366792	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Adenocarcinoma	19607727	CNVD
Multiple myeloma	16461302	CNVD
Breast cancer	21858162	CNVD
Emphysema	19352772	CNVD
Effusion lymphoma	18079361	CNVD
Medulloblastoma	17653508	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
Cancer	19907438	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101944000-101975400	Weak transcription	Right Atrium	heart
2	chr7:101950600-101961400	Weak transcription	Left Ventricle	heart
3	chr7:101950800-101961400	Weak transcription	Pancreas	Pancrea
4	chr7:101950800-101961600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:101950800-101962200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:101950800-101963800	Strong transcription	Brain Germinal Matrix	brain
7	chr7:101951000-101961400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:101951000-101961400	Weak transcription	Fetal Kidney	kidney
9	chr7:101951000-101961400	Strong transcription	Fetal Stomach	stomach
10	chr7:101951000-101961400	Weak transcription	Gastric	stomach
11	chr7:101951000-101961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:101951000-101961800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:101951000-101963000	Weak transcription	Fetal Lung	lung
14	chr7:101951000-101964000	Weak transcription	Brain Hippocampus Middle	brain
15	chr7:101951000-101964400	Weak transcription	Brain Substantia Nigra	brain
16	chr7:101951200-101961400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:101951200-101962600	Weak transcription	HSMM	muscle
18	chr7:101951400-101961600	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr7:101951600-101961600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:101951600-101962400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:101952400-101962800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:101952600-101963800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:101954000-101963000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:101954200-101960600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:101954200-101961400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:101954400-101961200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:101955400-101961800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:101955600-101960600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:101955600-101962400	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr7:101955600-101964000	Strong transcription	Fetal Brain Female	brain
31	chr7:101956800-101961800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:101957400-101961400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:101957400-101963400	Enhancers	Placenta	Placenta
34	chr7:101957600-101961400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:101957600-101961800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:101957600-101962400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:101957600-101962800	Strong transcription	GM12878-XiMat	blood
38	chr7:101957800-101961000	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr7:101958000-101962200	Weak transcription	Ovary	ovary
40	chr7:101958200-101961000	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:101958200-101963400	Weak transcription	Aorta	Aorta
42	chr7:101958400-101961200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:101958400-101961400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr7:101958400-101962200	Enhancers	Adipose Nuclei	Adipose
45	chr7:101958600-101960600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr7:101958600-101961400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr7:101958600-101961400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:101958600-101961400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr7:101959000-101960800	Genic enhancers	Fetal Muscle Leg	muscle
50	chr7:101959000-101962600	Enhancers	Placenta Amnion	Placenta Amnion

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