Variant report

Variant	rs2377953
Chromosome Location	chr10:50378880-50378881
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:50378595-50378901	GM12878	blood:	n/a	chr10:50378632-50378653
2	CTCF	chr10:50378658-50378880	K562	blood:	n/a	n/a
3	CTCF	chr10:50378618-50379003	K562	blood:	n/a	chr10:50378632-50378653
4	MYC	chr10:50378873-50378903	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr10:50376964-50379372	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:50376651..50379142-chr10:50381763..50383649,2	MCF-7	breast:
2	chr10:50376958..50379647-chr10:50506867..50509993,3	K562	blood:
3	chr10:50376646..50379647-chr10:50506865..50509993,4	K562	blood:

Variant related genes	Relation type
C10orf128	TF binding region
ENSG00000177354	Chromatin interaction
ENSG00000236208	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10218995	0.83[ASN][1000 genomes]
rs12771123	0.84[ASN][1000 genomes]
rs2002436	0.85[ASN][1000 genomes]
rs2002728	0.88[ASN][1000 genomes]
rs2466744	0.85[ASN][1000 genomes]
rs2466748	1.00[ASN][1000 genomes]
rs2466756	1.00[ASN][1000 genomes]
rs2490836	0.85[ASN][1000 genomes]
rs2725180	0.87[ASN][1000 genomes]
rs2725186	0.85[ASN][1000 genomes]
rs2725187	0.85[ASN][1000 genomes]
rs2725192	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725193	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2725200	0.81[ASN][1000 genomes]
rs2804933	0.89[ASN][1000 genomes]
rs2804936	0.85[ASN][1000 genomes]
rs2804942	0.85[ASN][1000 genomes]
rs4319434	0.82[ASN][1000 genomes]
rs4319435	0.82[ASN][1000 genomes]
rs6537499	0.81[ASN][1000 genomes]
rs7073645	0.82[ASN][1000 genomes]
rs7094217	0.81[ASN][1000 genomes]
rs73304790	0.85[ASN][1000 genomes]
rs73304793	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9418839	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50362400-50380600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr10:50367600-50384600	Weak transcription	Dnd41	blood
4	chr10:50368200-50380800	Weak transcription	Esophagus	oesophagus
5	chr10:50369600-50380400	Weak transcription	Gastric	stomach
6	chr10:50372000-50384000	Weak transcription	Colonic Mucosa	Colon
7	chr10:50372800-50386200	Weak transcription	Pancreas	Pancrea
8	chr10:50373200-50385200	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:50373600-50383000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:50374800-50379000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr10:50375000-50384000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:50375400-50382600	Weak transcription	Lung	lung
13	chr10:50375800-50380600	Weak transcription	Brain Substantia Nigra	brain
14	chr10:50375800-50380600	Weak transcription	Right Atrium	heart
15	chr10:50376000-50379200	Weak transcription	Spleen	Spleen
16	chr10:50376400-50381800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr10:50376800-50395200	Enhancers	Primary B cells from peripheral blood	blood
18	chr10:50377000-50380600	Weak transcription	Adipose Nuclei	Adipose
19	chr10:50377200-50379800	Weak transcription	Right Ventricle	heart
20	chr10:50377400-50379200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr10:50377400-50379200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr10:50377400-50379600	Weak transcription	HSMMtube	muscle
23	chr10:50377400-50381000	Enhancers	K562	blood
24	chr10:50377400-50382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr10:50377600-50379600	Weak transcription	Primary B cells from cord blood	blood
26	chr10:50377600-50380600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr10:50377800-50384000	Weak transcription	NHDF-Ad	bronchial
28	chr10:50378000-50379800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr10:50378000-50381800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr10:50378000-50386000	Enhancers	Fetal Muscle Leg	muscle
31	chr10:50378000-50388600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr10:50378200-50380600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr10:50378400-50380600	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:50378600-50384800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:50378800-50379800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr10:50378800-50379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:50378800-50380800	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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