Variant report

Variant	rs17123865
Chromosome Location	chr12:50066047-50066048
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	chr12:50064688-50066106	GM12892	blood:	n/a	n/a
2	RELA	chr12:50064647-50067064	GM12891	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
3	RELA	chr12:50064419-50067389	GM19193	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
4	POLR2A	chr12:50064578-50066098	GM12892	blood:	n/a	n/a
5	MTA3	chr12:50065848-50067551	GM12878	blood:	n/a	n/a
6	RELA	chr12:50064591-50067007	GM19099	blood:	n/a	chr12:50065248-50065257 chr12:50065246-50065255 chr12:50065248-50065257 chr12:50065246-50065255
7	EP300	chr12:50065325-50066672	GM12878	blood:	n/a	chr12:50065885-50065892
8	NFIC	chr12:50065810-50066903	GM12878	blood:	n/a	n/a
9	STAT5A	chr12:50065442-50066344	GM12878	blood:	n/a	n/a
10	IKZF1	chr12:50065978-50066931	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50065718..50069326-chr12:50125302..50127957,3	K562	blood:
2	chr12:50050102..50052807-chr12:50065417..50067825,2	K562	blood:
3	chr12:50062633..50068951-chr12:50134385..50140154,8	K562	blood:
4	chr12:50059879..50062225-chr12:50063774..50067547,4	K562	blood:
5	chr12:50064210..50067102-chr12:50135101..50137236,3	K562	blood:
6	chr12:50054963..50057045-chr12:50065991..50068572,3	K562	blood:
7	chr12:50016535..50018168-chr12:50064664..50066809,2	K562	blood:
8	chr12:50058474..50062820-chr12:50063991..50067805,5	MCF-7	breast:
9	chr12:50066009..50068301-chr12:50069038..50071401,2	K562	blood:
10	chr12:50065969..50068241-chr12:50076218..50078635,2	K562	blood:
11	chr12:50048532..50051602-chr12:50065327..50069233,3	K562	blood:

Variant related genes	Relation type
FMNL3	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000161791	Chromatin interaction
ENSG00000139644	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11169048	1.00[CHB][hapmap]
rs11169058	1.00[CHB][hapmap]
rs11169059	1.00[CHB][hapmap]
rs11169101	0.89[CEU][hapmap]
rs12296440	1.00[CHB][hapmap]
rs12305716	1.00[CHB][hapmap]
rs12309053	1.00[CHB][hapmap]
rs12315996	1.00[CHB][hapmap]
rs12322561	1.00[CHB][hapmap]
rs17123751	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs17123790	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]
rs17123919	0.82[YRI][hapmap]
rs17123922	1.00[YRI][hapmap]
rs17123943	1.00[YRI][hapmap]
rs17197593	1.00[CHB][hapmap]
rs2272478	1.00[CHB][hapmap]
rs4569075	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs7294648	1.00[CHB][hapmap]
rs7294973	1.00[CHB][hapmap]
rs7955586	1.00[CEU][hapmap]
rs7968302	1.00[JPT][hapmap]
rs7976165	1.00[CHB][hapmap]
rs9919740	1.00[ASW][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50042400-50067000	Weak transcription	Fetal Brain Male	brain
2	chr12:50052200-50066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:50052600-50067000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:50052600-50067400	Weak transcription	Fetal Brain Female	brain
5	chr12:50054400-50069800	Enhancers	Left Ventricle	heart
6	chr12:50057400-50066200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:50057600-50066200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:50057600-50066400	Weak transcription	Aorta	Aorta
9	chr12:50057600-50066800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:50057600-50067000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:50057600-50067000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:50057600-50067200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr12:50057800-50066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:50058400-50067200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:50059000-50066200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:50059000-50066200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:50060000-50066600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:50060400-50069400	Enhancers	Fetal Thymus	thymus
19	chr12:50062000-50069600	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:50062200-50067000	Enhancers	Brain Anterior Caudate	brain
21	chr12:50063000-50066400	Enhancers	Brain Angular Gyrus	brain
22	chr12:50063200-50066400	Enhancers	Brain Cingulate Gyrus	brain
23	chr12:50063200-50066800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:50063200-50069200	Enhancers	Thymus	Thymus
25	chr12:50063200-50069400	Enhancers	Lung	lung
26	chr12:50063200-50069800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:50063400-50068200	Enhancers	Spleen	Spleen
28	chr12:50063600-50066200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:50063600-50069200	Enhancers	Primary hematopoietic stem cells	blood
30	chr12:50063600-50069400	Enhancers	Right Atrium	heart
31	chr12:50063800-50066800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr12:50063800-50069400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr12:50063800-50069400	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr12:50063800-50069400	Enhancers	Right Ventricle	heart
35	chr12:50063800-50070000	Enhancers	Psoas Muscle	Psoas
36	chr12:50063800-50070200	Enhancers	Ovary	ovary
37	chr12:50063800-50070600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr12:50063800-50070600	Enhancers	Fetal Lung	lung
39	chr12:50064000-50067200	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr12:50064200-50066800	Enhancers	Brain Hippocampus Middle	brain
41	chr12:50064200-50068000	Enhancers	Liver	Liver
42	chr12:50064200-50068400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr12:50064200-50068600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:50064200-50070000	Enhancers	Fetal Muscle Leg	muscle
45	chr12:50064400-50066200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr12:50064400-50066600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:50064400-50067000	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr12:50064400-50067400	Enhancers	Gastric	stomach
49	chr12:50064400-50067600	Enhancers	HSMMtube	muscle
50	chr12:50064400-50069400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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