Variant report

Variant	esv1817071
Chromosome Location	chr6:44670110-44698829
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44623570..44625541-chr6:44687275..44689539,2	K562	blood:
2	chr6:44689048..44691057-chr6:44692062..44695050,2	K562	blood:
3	chr6:44691206..44694141-chr6:44700242..44701897,2	K562	blood:
4	chr6:44681475..44683976-chr6:44685935..44688011,2	K562	blood:
5	chr6:44681475..44683976-chr6:44685935..44688011,2	K562	blood:
6	chr6:44629008..44631084-chr6:44694856..44697069,2	MCF-7	breast:
7	chr6:44689048..44691057-chr6:44692062..44695050,2	K562	blood:
8	chr6:44684410..44686836-chr6:44696222..44698062,2	MCF-7	breast:
9	chr6:44684410..44686836-chr6:44696222..44698062,2	MCF-7	breast:
10	chr6:44681103..44683539-chr6:44690355..44693257,2	MCF-7	breast:
11	chr6:44698581..44700175-chr6:45387689..45389869,2	MCF-7	breast:
12	chr6:44646457..44648183-chr6:44695917..44698549,2	MCF-7	breast:
13	chr6:44683131..44684675-chr6:44689047..44691268,2	K562	blood:
14	chr6:44629072..44631596-chr6:44697653..44700254,3	MCF-7	breast:
15	chr6:44681103..44683539-chr6:44690355..44693257,2	MCF-7	breast:
16	chr6:44683131..44684675-chr6:44689047..44691268,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124813	chromatin interactions
ENSG00000271857	chromatin interactions

Extended variants
information (count: 1130 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1130 , 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	rs150455940	chr6:44670121-44670122	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs9463010	chr6:44670133-44670134	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs77683288	chr6:44670186-44670187	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs558784229	chr6:44670230-44670231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201303659	chr6:44670310-44670311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190137	chr6:44670330-44670331	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs373863259	chr6:44670409-44670410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7758266	chr6:44670572-44670573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142413186	chr6:44670628-44670629	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371884135	chr6:44670632-44670633	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186384810	chr6:44670651-44670652	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs558662150	chr6:44670654-44670655	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs2170620	chr6:44670657-44670658	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79368199	chr6:44670666-44670667	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs146387525	chr6:44670668-44670669	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs75886573	chr6:44670720-44670721	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs574801093	chr6:44670775-44670776	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs574576945	chr6:44670788-44670789	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs117522073	chr6:44670793-44670794	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs139008534	chr6:44670809-44670810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115368111	chr6:44670828-44670829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs143733857	chr6:44670851-44670852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190606981	chr6:44670891-44670892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543495134	chr6:44670914-44670915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564631779	chr6:44670967-44670968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531663922	chr6:44671000-44671001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183202275	chr6:44671046-44671047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs227811	chr6:44671087-44671088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs73440475	chr6:44671124-44671125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186377836	chr6:44671179-44671180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576738006	chr6:44671185-44671186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191181889	chr6:44671194-44671195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552390323	chr6:44671198-44671199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs66518712	chr6:44671210-44671211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60185731	chr6:44671211-44671212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs79642707	chr6:44671214-44671215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199950229	chr6:44671216-44671217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28579650	chr6:44671223-44671224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183959786	chr6:44671224-44671225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9369504	chr6:44671225-44671226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9369505	chr6:44671230-44671231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs28662769	chr6:44671236-44671237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs148989555	chr6:44671238-44671239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs59920137	chr6:44671239-44671240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs200932845	chr6:44671247-44671248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111619799	chr6:44671248-44671249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112567953	chr6:44671249-44671250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9369506	chr6:44671252-44671253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs397796077	chr6:44671257-44671258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs9369507	chr6:44671258-44671259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44665600-44673800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:44667200-44691000	Weak transcription	Right Atrium	heart
3	chr6:44668800-44670200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:44668800-44670400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:44668800-44670800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:44668800-44670800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:44669000-44670200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:44669000-44670400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:44669000-44670400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr6:44669000-44670600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:44669000-44670800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:44669200-44670200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:44669400-44670200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:44669400-44670200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr6:44669600-44670600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:44669600-44670800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr6:44669800-44670200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:44669800-44670200	Bivalent Enhancer	HepG2	liver
19	chr6:44669800-44670400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr6:44670000-44670200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:44670000-44670200	Enhancers	NHDF-Ad	bronchial
22	chr6:44670000-44670400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:44670000-44670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:44670000-44670800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:44670000-44670800	Enhancers	NH-A	brain
26	chr6:44670200-44672600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:44670400-44671600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:44670400-44679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr6:44670400-44679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:44670600-44670800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:44670600-44670800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:44670600-44670800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr6:44670600-44670800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:44670600-44670800	Enhancers	Spleen	Spleen
35	chr6:44670800-44671800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr6:44670800-44671800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:44670800-44672200	Weak transcription	Spleen	Spleen
38	chr6:44670800-44673800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:44671200-44671400	Enhancers	Fetal Brain Male	brain
40	chr6:44671400-44672800	Enhancers	GM12878-XiMat	blood
41	chr6:44671600-44673200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:44671800-44672800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:44672400-44672600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr6:44672600-44672800	Bivalent Enhancer	HepG2	liver
45	chr6:44673600-44673800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr6:44673600-44673800	Enhancers	Fetal Brain Male	brain
47	chr6:44673800-44674000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:44673800-44674000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr6:44679200-44679400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:44679400-44681200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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