Variant report

Variant	rs10919295
Chromosome Location	chr1:170040320-170040321
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	CUX1	chr1:170040175-170041067	GM12878	blood:	n/a	n/a
2	SPI1	chr1:170040205-170041191	GM12878	blood:	n/a	n/a
3	EBF1	chr1:170039811-170041625	GM12878	blood:	n/a	chr1:170040780-170040791
4	EBF1	chr1:170040141-170041133	GM12878	blood:	n/a	chr1:170040780-170040791
5	MAZ	chr1:170040297-170040353	GM12878	blood:	n/a	n/a
6	EBF1	chr1:170040178-170040461	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KIFAP3	TF binding region

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

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10158922	1.00[AMR][1000 genomes]
rs10218486	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919294	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919300	1.00[EUR][1000 genomes]
rs10919308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12025296	1.00[EUR][1000 genomes]
rs12044536	1.00[EUR][1000 genomes]
rs12061373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061500	1.00[AMR][1000 genomes]
rs12061626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066551	1.00[EUR][1000 genomes]
rs12071325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073288	1.00[EUR][1000 genomes]
rs12075569	1.00[EUR][1000 genomes]
rs12076018	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077708	1.00[EUR][1000 genomes]
rs12079608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084420	1.00[AMR][1000 genomes]
rs12087450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090220	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095784	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862886	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103641	1.00[EUR][1000 genomes]
rs2272912	1.00[EUR][1000 genomes]
rs2901261	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4279900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57038529	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023593	1.00[EUR][1000 genomes]
rs73041148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122452	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531947	1.00[EUR][1000 genomes]
rs989054	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169952400-170043000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:170018200-170042400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:170018800-170040600	Weak transcription	Aorta	Aorta
4	chr1:170019000-170041400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:170019000-170042600	Weak transcription	Thymus	Thymus
6	chr1:170019200-170042400	Weak transcription	Fetal Lung	lung
7	chr1:170032800-170040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:170032800-170042400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:170032800-170042600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:170033800-170040800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:170033800-170042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:170036400-170042200	Weak transcription	NHEK	skin
13	chr1:170036600-170043000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr1:170036800-170042600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:170037000-170040600	Weak transcription	Pancreas	Pancrea
16	chr1:170037000-170041600	Weak transcription	Right Ventricle	heart
17	chr1:170037000-170042600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:170037000-170042800	Weak transcription	Right Atrium	heart
19	chr1:170037000-170043000	Weak transcription	Left Ventricle	heart
20	chr1:170037000-170043200	Weak transcription	Small Intestine	intestine
21	chr1:170037200-170042000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:170037200-170042600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:170037200-170042600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr1:170037200-170042600	Weak transcription	Fetal Thymus	thymus
25	chr1:170037200-170042600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:170037200-170042600	Weak transcription	HepG2	liver
27	chr1:170037200-170043200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:170037400-170042000	Weak transcription	K562	blood
29	chr1:170037400-170043000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:170037800-170042000	Weak transcription	Adipose Nuclei	Adipose
31	chr1:170037800-170042600	Weak transcription	Fetal Heart	heart
32	chr1:170038000-170043200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr1:170038400-170041200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:170038400-170041600	Weak transcription	Osteobl	bone
35	chr1:170038400-170042200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:170038600-170041400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:170038600-170041400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:170038600-170042000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:170038600-170042000	Weak transcription	NHLF	lung
40	chr1:170038600-170042600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:170038600-170043000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:170038600-170043000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:170038800-170040400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:170038800-170040600	Weak transcription	Liver	Liver
45	chr1:170038800-170041400	Enhancers	Dnd41	blood
46	chr1:170038800-170041400	Weak transcription	NHDF-Ad	bronchial
47	chr1:170038800-170041600	Weak transcription	HMEC	breast
48	chr1:170039000-170040600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:170039000-170041200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr1:170039000-170041200	Weak transcription	Primary T cells from cord blood	blood

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