Variant report

Variant	rs74137733
Chromosome Location	chr10:43951919-43951920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SREBP1	chr10:43950637-43952182	GM12878	blood:	n/a	n/a
2	MAFK	chr10:43951774-43951980	HepG2	liver:	n/a	chr10:43951881-43951891 chr10:43951882-43951891
3	POLR2A	chr10:43950552-43952003	GM12892	blood:	n/a	n/a
4	JUN	chr10:43950724-43952003	K562	blood:	n/a	chr10:43950832-43950841 chr10:43951880-43951890
5	MXI1	chr10:43949978-43952014	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr10:43951822-43951927	HepG2	liver:	n/a	n/a
7	TBL1XR1	chr10:43951788-43951949	GM12878	blood:	n/a	n/a
8	FOS	chr10:43951902-43952027	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr10:43950541-43951926	SK-N-SH	brain:	n/a	chr10:43951188-43951201 chr10:43951188-43951201
10	CHD2	chr10:43950738-43951933	GM12878	blood:	n/a	chr10:43951017-43951027

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43890245..43893733-chr10:43950048..43952889,6	MCF-7	breast:
2	chr10:43856796..43859444-chr10:43950333..43952475,2	MCF-7	breast:
3	chr10:43930874..43934590-chr10:43949528..43951985,5	K562	blood:
4	chr10:43930912..43933891-chr10:43949765..43952473,2	MCF-7	breast:
5	chr10:43901812..43907473-chr10:43949275..43952974,10	MCF-7	breast:
6	chr10:43901457..43906189-chr10:43948713..43953343,15	MCF-7	breast:
7	chr10:43951235..43952941-chr10:43963586..43966381,2	K562	blood:
8	chr10:43930579..43934633-chr10:43949587..43954210,8	K562	blood:
9	chr10:43943009..43945472-chr10:43950940..43952726,2	MCF-7	breast:
10	chr10:43949801..43952727-chr10:43954596..43956488,2	K562	blood:
11	chr10:43879008..43883052-chr10:43949060..43952010,4	K562	blood:
12	chr10:43887055..43906178-chr10:43946385..43955803,85	K562	blood:
13	chr10:43911252..43915931-chr10:43947419..43953058,11	K562	blood:

No data

Variant related genes	Relation type
RNU7-193P	TF binding region
ENSG00000221400	Chromatin interaction
ENSG00000169813	Chromatin interaction
ENSG00000243660	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12570790	0.90[AFR][1000 genomes]
rs12571914	0.90[AFR][1000 genomes]
rs55659835	0.90[AFR][1000 genomes]
rs55957438	0.89[AFR][1000 genomes]
rs55969732	1.00[EUR][1000 genomes]
rs55984046	1.00[EUR][1000 genomes]
rs56067782	1.00[EUR][1000 genomes]
rs56305563	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56706302	1.00[EUR][1000 genomes]
rs57050417	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57169447	1.00[EUR][1000 genomes]
rs58036139	1.00[EUR][1000 genomes]
rs58052353	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58345794	1.00[EUR][1000 genomes]
rs58594005	1.00[EUR][1000 genomes]
rs58829593	0.89[AFR][1000 genomes]
rs59615405	1.00[AFR][1000 genomes]
rs59737279	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59770090	0.90[AFR][1000 genomes]
rs59946114	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60057912	0.90[AFR][1000 genomes]
rs60274910	0.90[AFR][1000 genomes]
rs61859048	0.90[AFR][1000 genomes]
rs61859049	0.90[AFR][1000 genomes]
rs61859050	0.90[AFR][1000 genomes]
rs61859051	0.90[AFR][1000 genomes]
rs61859052	1.00[AFR][1000 genomes]
rs61859058	0.90[AFR][1000 genomes]
rs61859967	0.90[AFR][1000 genomes]
rs61859968	0.90[AFR][1000 genomes]
rs73267969	1.00[EUR][1000 genomes]
rs74135720	1.00[EUR][1000 genomes]
rs74135736	1.00[EUR][1000 genomes]
rs74137729	1.00[EUR][1000 genomes]
rs74137730	1.00[EUR][1000 genomes]
rs74137734	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74137735	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74137736	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74137737	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74137738	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74137739	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74137740	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1043746	chr10:43940898-43977155	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43950000-43952000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr10:43950200-43952000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr10:43950200-43952200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
4	chr10:43950200-43952200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:43950600-43952000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr10:43950600-43952000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:43950600-43952200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:43950800-43952000	Flanking Active TSS	NHEK	skin
9	chr10:43951000-43952200	Enhancers	Fetal Brain Male	brain
10	chr10:43951200-43952000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:43951200-43952000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr10:43951200-43952000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr10:43951200-43952000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr10:43951200-43952000	Flanking Active TSS	Fetal Muscle Trunk	muscle
15	chr10:43951400-43952000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:43951400-43952000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr10:43951400-43952000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr10:43951400-43952000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr10:43951400-43952000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr10:43951400-43952000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr10:43951400-43952000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr10:43951400-43952000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr10:43951400-43952000	Flanking Active TSS	Brain Anterior Caudate	brain
24	chr10:43951400-43952000	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr10:43951400-43952000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr10:43951400-43952000	Flanking Active TSS	Colonic Mucosa	Colon
27	chr10:43951400-43952000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr10:43951400-43952000	Flanking Active TSS	Fetal Lung	lung
29	chr10:43951400-43952000	Flanking Active TSS	Fetal Muscle Leg	muscle
30	chr10:43951400-43952000	Flanking Active TSS	Fetal Thymus	thymus
31	chr10:43951400-43952000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr10:43951400-43952000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr10:43951400-43952000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr10:43951400-43952000	Flanking Active TSS	Thymus	Thymus
35	chr10:43951400-43952000	Flanking Active TSS	A549	lung
36	chr10:43951400-43952000	Flanking Active TSS	GM12878-XiMat	blood
37	chr10:43951400-43952000	Flanking Active TSS	Hela-S3	cervix
38	chr10:43951400-43952000	Flanking Active TSS	HepG2	liver
39	chr10:43951400-43952000	Flanking Active TSS	HSMM	muscle
40	chr10:43951400-43952000	Flanking Active TSS	K562	blood
41	chr10:43951400-43952000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr10:43951400-43952000	Flanking Active TSS	NHDF-Ad	bronchial
43	chr10:43951400-43952000	Flanking Active TSS	NHLF	lung
44	chr10:43951400-43952000	Flanking Active TSS	Osteobl	bone
45	chr10:43951400-43952200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:43951400-43952200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr10:43951400-43952200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr10:43951400-43952200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr10:43951400-43952200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr10:43951400-43952200	Enhancers	Spleen	Spleen

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