Variant report

Variant	rs62371185
Chromosome Location	chr5:68391875-68391876
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:68388226..68392530-chr5:68662317..68667070,8	K562	blood:
2	chr5:68388860..68391967-chr5:68513712..68515652,4	K562	blood:
3	chr5:68389331..68393521-chr5:68397846..68403936,9	K562	blood:
4	chr5:68388570..68392149-chr5:68396982..68399420,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085231	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000145740	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17271888	1.00[ASN][1000 genomes]
rs62354485	1.00[ASN][1000 genomes]
rs62356860	1.00[ASN][1000 genomes]
rs62371187	1.00[ASN][1000 genomes]
rs62371222	1.00[ASN][1000 genomes]
rs62371224	1.00[ASN][1000 genomes]
rs62373160	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3391099	chr5:68377245-68400350	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
3	nsv881765	chr5:68379836-68448694	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68390600-68405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:68390800-68392400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr5:68390800-68392600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr5:68390800-68392600	Weak transcription	Lung	lung
5	chr5:68390800-68392800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr5:68390800-68395800	Weak transcription	Aorta	Aorta
7	chr5:68390800-68395800	Weak transcription	Esophagus	oesophagus
8	chr5:68390800-68405200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:68391000-68392000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr5:68391000-68392000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr5:68391000-68392000	Enhancers	Liver	Liver
12	chr5:68391000-68392000	Enhancers	Colon Smooth Muscle	Colon
13	chr5:68391000-68392000	Enhancers	Fetal Brain Male	brain
14	chr5:68391000-68392000	Genic enhancers	Fetal Intestine Small	intestine
15	chr5:68391000-68392000	Enhancers	Thymus	Thymus
16	chr5:68391000-68392000	Enhancers	HUVEC	blood vessel
17	chr5:68391000-68392200	Enhancers	Fetal Heart	heart
18	chr5:68391000-68392400	Genic enhancers	Primary B cells from peripheral blood	blood
19	chr5:68391000-68392600	Enhancers	Brain Germinal Matrix	brain
20	chr5:68391000-68392800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr5:68391000-68393600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:68391000-68398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:68391000-68399000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:68391000-68399000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr5:68391000-68399000	Weak transcription	NHDF-Ad	bronchial
26	chr5:68391000-68399200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:68391000-68399200	Weak transcription	Fetal Kidney	kidney
28	chr5:68391000-68400600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:68391000-68401000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:68391000-68401000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr5:68391000-68402800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:68391000-68403000	Weak transcription	HSMMtube	muscle
33	chr5:68391000-68415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:68391200-68392000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:68391200-68392000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:68391200-68392000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:68391200-68392000	Enhancers	Duodenum Mucosa	Duodenum
38	chr5:68391200-68392200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr5:68391200-68392600	Genic enhancers	Fetal Thymus	thymus
40	chr5:68391200-68393000	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr5:68391200-68394400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:68391200-68398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr5:68391200-68399000	Weak transcription	Brain Angular Gyrus	brain
44	chr5:68391200-68399200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:68391200-68401200	Weak transcription	Right Ventricle	heart
46	chr5:68391200-68402600	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:68391200-68405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:68391200-68405600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr5:68391200-68405600	Weak transcription	Psoas Muscle	Psoas
50	chr5:68391400-68392000	Weak transcription	Primary monocytes fromperipheralblood	blood

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