Variant report

Variant	rs17451516
Chromosome Location	chr10:45961144-45961145
allele	A/G
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	POLR2A	chr10:45960470-45961190	K562	blood:	n/a	n/a
2	CTCF	chr10:45961000-45961150	BJ	skin:	n/a	n/a
3	POLR2A	chr10:45960434-45962238	K562	blood:	n/a	n/a
4	SMC3	chr10:45960185-45961170	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45957552..45959872-chr10:45960429..45962304,2	K562	blood:
2	chr10:45960989..45962964-chr10:45966369..45968262,2	K562	blood:

Variant related genes	Relation type
MARCH8	TF binding region
ENSG00000165406	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12266963	1.00[EUR][1000 genomes]
rs12762375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12772724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12773979	1.00[EUR][1000 genomes]
rs12774534	1.00[EUR][1000 genomes]
rs12776062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12781248	1.00[EUR][1000 genomes]
rs12782256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12783037	1.00[EUR][1000 genomes]
rs12784527	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157883	0.84[EUR][1000 genomes]
rs17451757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17452587	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17523660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34028441	1.00[AMR][1000 genomes]
rs34063374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34208634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34349618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34371883	1.00[EUR][1000 genomes]
rs34445001	1.00[EUR][1000 genomes]
rs34570485	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34640551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34681532	1.00[AMR][1000 genomes]
rs34744856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34763590	1.00[AMR][1000 genomes]
rs34831109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34971823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35098689	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35124937	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35468901	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35479649	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35489926	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35490739	1.00[AMR][1000 genomes]
rs35517795	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35599399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35911307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4073658	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71494783	1.00[EUR][1000 genomes]
rs71494784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71494801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71496616	1.00[AMR][1000 genomes]
rs9422649	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv895108	chr10:45878908-46224333	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
4	nsv895109	chr10:45882741-46210665	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv1043536	chr10:45915941-46076235	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45938600-45967200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:45938600-45967200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:45943200-45965400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:45948000-45963600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr10:45949200-45965600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:45950000-45967200	Weak transcription	Psoas Muscle	Psoas
7	chr10:45950400-45966200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr10:45950800-45965600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:45951000-45965600	Weak transcription	Brain Germinal Matrix	brain
10	chr10:45951400-45962200	Weak transcription	HMEC	breast
11	chr10:45951600-45965600	Weak transcription	Small Intestine	intestine
12	chr10:45953000-45965600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:45953600-45969200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:45954600-45965600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr10:45955000-45965600	Weak transcription	NHLF	lung
16	chr10:45955600-45962400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:45955600-45965400	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:45956200-45965400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr10:45956400-45966800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:45956600-45965600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:45956800-45963000	Weak transcription	Fetal Brain Female	brain
22	chr10:45956800-45965400	Weak transcription	Thymus	Thymus
23	chr10:45956800-45965600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:45956800-45965600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:45956800-45966000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:45957000-45961400	Weak transcription	Dnd41	blood
27	chr10:45957000-45962000	Weak transcription	Esophagus	oesophagus
28	chr10:45957000-45965400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr10:45957000-45965600	Weak transcription	Fetal Lung	lung
30	chr10:45957400-45961200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr10:45957400-45966200	Weak transcription	Fetal Kidney	kidney
32	chr10:45958000-45963000	Enhancers	Primary B cells from peripheral blood	blood
33	chr10:45958400-45961200	Enhancers	Fetal Heart	heart
34	chr10:45958800-45965600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr10:45959000-45961600	Weak transcription	Spleen	Spleen
36	chr10:45959000-45965600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:45959000-45965600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr10:45959000-45965600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr10:45959000-45967200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:45959400-45962000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr10:45959400-45965600	Weak transcription	Ovary	ovary
42	chr10:45959400-45966000	Weak transcription	Fetal Intestine Large	intestine
43	chr10:45959600-45965400	Weak transcription	Fetal Muscle Leg	muscle
44	chr10:45959600-45965600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr10:45959800-45965400	Weak transcription	Primary T cells from cord blood	blood
46	chr10:45959800-45965400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr10:45959800-45965600	Weak transcription	Aorta	Aorta
48	chr10:45959800-45965600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:45959800-45965600	Weak transcription	Fetal Stomach	stomach
50	chr10:45959800-45965600	Weak transcription	Left Ventricle	heart

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