Variant report

Variant	rs2275772
Chromosome Location	chr10:5759801-5759802
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	GATA3	chr10:5759683-5759864	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5748091..5753661-chr10:5757526..5761076,4	K562	blood:
2	chr10:5749811..5754744-chr10:5757295..5761114,5	MCF-7	breast:
3	chr10:5758294..5759916-chr10:5768801..5770809,2	K562	blood:
4	chr10:5757345..5759947-chr10:5761882..5764434,2	K562	blood:
5	chr10:5758553..5760843-chr10:5766010..5768055,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226647	TF binding region
ENSG00000108021	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11254115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11254828	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11254898	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11255139	0.81[AMR][1000 genomes]
rs11255237	0.81[AMR][1000 genomes]
rs11255288	0.81[AMR][1000 genomes]
rs12240768	0.89[AFR][1000 genomes]
rs12257412	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12259275	0.89[AFR][1000 genomes]
rs12571055	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12572339	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1567708	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2246268	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669133	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2669139	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2797490	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2797492	1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2797497	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34404996	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750636	0.90[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3793708	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3793714	1.00[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes]
rs3924378	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs57103262	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58502403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59827083	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60864347	0.81[AMR][1000 genomes]
rs7089693	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7096328	0.93[ASN][1000 genomes]
rs73610559	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7908235	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv1796213	chr10:5716555-5766165	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv522415	chr10:5721653-5768493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv1050663	chr10:5737979-5785918	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv519891	chr10:5753737-5768493	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv525080	chr10:5754611-5766337	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5734800-5763400	Weak transcription	HSMM	muscle
2	chr10:5735200-5767000	Weak transcription	Fetal Muscle Leg	muscle
3	chr10:5735400-5761600	Weak transcription	NHEK	skin
4	chr10:5735400-5762000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:5738600-5769000	Weak transcription	Left Ventricle	heart
6	chr10:5740400-5768600	Weak transcription	Psoas Muscle	Psoas
7	chr10:5741400-5760600	Weak transcription	Small Intestine	intestine
8	chr10:5741400-5765600	Weak transcription	A549	lung
9	chr10:5743200-5762600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:5750000-5763400	Weak transcription	K562	blood
11	chr10:5751600-5763800	Weak transcription	Osteobl	bone
12	chr10:5752200-5763600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:5752600-5760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:5752600-5767000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr10:5753000-5762600	Weak transcription	Dnd41	blood
16	chr10:5753600-5762800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:5753600-5762800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr10:5753600-5763400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:5753600-5764000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:5753800-5760000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:5753800-5762200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr10:5753800-5762200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr10:5753800-5762200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:5753800-5762400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:5753800-5763000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:5753800-5763200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr10:5753800-5763600	Weak transcription	Adipose Nuclei	Adipose
28	chr10:5753800-5763600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:5753800-5764600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:5753800-5765600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr10:5753800-5768600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr10:5753800-5769000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:5753800-5769000	Weak transcription	Thymus	Thymus
34	chr10:5753800-5772200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr10:5753800-5772400	Weak transcription	Brain Anterior Caudate	brain
36	chr10:5753800-5772600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr10:5753800-5772800	Weak transcription	Brain Hippocampus Middle	brain
38	chr10:5753800-5773200	Weak transcription	NHLF	lung
39	chr10:5753800-5783400	Weak transcription	Brain Substantia Nigra	brain
40	chr10:5753800-5787000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr10:5754000-5761400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr10:5754000-5762200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr10:5754000-5762400	Weak transcription	GM12878-XiMat	blood
44	chr10:5754000-5762600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:5754000-5762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:5754000-5762800	Weak transcription	HMEC	breast
47	chr10:5754000-5763400	Weak transcription	Primary B cells from cord blood	blood
48	chr10:5754000-5768600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:5754000-5772800	Weak transcription	Ovary	ovary
50	chr10:5754000-5773200	Weak transcription	Colon Smooth Muscle	Colon

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