Variant report

Variant	rs11909953
Chromosome Location	chr21:17170083-17170084
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	ATF1	chr21:17170036-17170279	K562	blood:	n/a	n/a
2	EP300	chr21:17170023-17170128	GM12878	blood:	n/a	n/a
3	JUN	chr21:17169892-17170218	K562	blood:	n/a	n/a
4	IRF1	chr21:17169397-17170836	K562	blood:	n/a	chr21:17170736-17170746 chr21:17169995-17170016 chr21:17170753-17170767
5	POLR2A	chr21:17169926-17170307	MCF10A-Er-Src	breast:	n/a	n/a
6	IRF1	chr21:17169639-17170518	K562	blood:	n/a	chr21:17169995-17170016
7	IRF1	chr21:17169889-17170229	K562	blood:	n/a	chr21:17169995-17170016

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17102367..17105590-chr21:17169979..17171501,3	K562	blood:

Variant related genes	Relation type
USP25	TF binding region
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11909481	1.00[EUR][1000 genomes]
rs11910884	0.83[YRI][hapmap];0.84[AFR][1000 genomes]
rs17241402	0.84[CHB][hapmap]
rs17307156	0.84[CHB][hapmap]
rs2026853	0.83[YRI][hapmap]
rs2183553	1.00[ASN][1000 genomes]
rs2205585	0.82[AFR][1000 genomes]
rs2223176	0.82[AFR][1000 genomes]
rs2245574	0.84[YRI][hapmap];0.84[AFR][1000 genomes]
rs2823464	0.81[CHB][hapmap]
rs2823467	0.82[AFR][1000 genomes]
rs2823472	0.82[YRI][hapmap]
rs2823473	0.83[AFR][1000 genomes]
rs2823477	0.93[CHB][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2823479	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823480	0.93[CHB][hapmap];0.81[ASN][1000 genomes]
rs2823487	0.93[CHB][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2823488	0.92[CHB][hapmap];0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2823489	0.82[YRI][hapmap]
rs2823493	0.84[YRI][hapmap];0.85[AFR][1000 genomes]
rs2823496	0.82[AFR][1000 genomes]
rs2823497	0.82[AFR][1000 genomes]
rs2823499	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs2823500	0.84[YRI][hapmap];0.80[AFR][1000 genomes]
rs28484960	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28553297	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs28730511	0.82[AFR][1000 genomes]
rs55804442	0.86[ASN][1000 genomes]
rs58134477	0.81[ASN][1000 genomes]
rs60174740	0.86[ASN][1000 genomes]
rs6517612	0.92[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs7277813	0.82[AFR][1000 genomes]
rs7278699	1.00[EUR][1000 genomes]
rs7283839	0.86[AFR][1000 genomes]
rs73348818	0.93[ASN][1000 genomes]
rs73359303	1.00[EUR][1000 genomes]
rs73892561	0.93[ASN][1000 genomes]
rs8130607	0.84[CHB][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs8132755	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9305754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9974210	0.82[AFR][1000 genomes]
rs9975374	0.90[ASN][1000 genomes]
rs9977000	0.82[AFR][1000 genomes]
rs9977019	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9980591	0.93[ASN][1000 genomes]
rs9981766	0.84[AFR][1000 genomes]
rs9982630	0.93[ASN][1000 genomes]
rs9983248	0.82[AFR][1000 genomes]
rs9984651	0.88[ASN][1000 genomes]
rs9985029	0.93[ASN][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	nsv834050	chr21:17146090-17348951	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1063035	chr21:17154222-17224344	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17151800-17191000	Weak transcription	NH-A	brain
2	chr21:17155000-17171000	Weak transcription	Dnd41	blood
3	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
4	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr21:17155000-17188600	Weak transcription	HepG2	liver
6	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
8	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
11	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
12	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
18	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr21:17155200-17186200	Weak transcription	Fetal Thymus	thymus
20	chr21:17155200-17187200	Weak transcription	Thymus	Thymus
21	chr21:17155200-17187400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:17155200-17187800	Weak transcription	Fetal Kidney	kidney
23	chr21:17155200-17189800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
25	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
26	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
29	chr21:17155600-17176800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr21:17155600-17179200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr21:17155600-17182000	Weak transcription	Fetal Lung	lung
32	chr21:17155800-17176800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr21:17155800-17177200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr21:17155800-17185400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr21:17155800-17186200	Weak transcription	Fetal Muscle Leg	muscle
36	chr21:17155800-17187200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr21:17156000-17176200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:17157000-17178400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr21:17161400-17187200	Weak transcription	Aorta	Aorta
40	chr21:17161600-17172600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr21:17161600-17187400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr21:17162000-17177200	Weak transcription	NHDF-Ad	bronchial
43	chr21:17162000-17182000	Weak transcription	Osteobl	bone
44	chr21:17162400-17171400	Weak transcription	HSMM	muscle
45	chr21:17162400-17179200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:17162800-17179800	Weak transcription	HSMMtube	muscle
47	chr21:17164600-17176800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr21:17164600-17183400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:17166200-17177000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr21:17166600-17174000	Strong transcription	Monocytes-CD14+_RO01746	blood

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