Variant report

Variant	rs872768
Chromosome Location	chr21:46541927-46541928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
2	chr21:46493588..46497852-chr21:46541349..46545442,5	K562	blood:
3	chr21:46541198..46544422-chr21:46544789..46547564,3	K562	blood:
4	chr21:46497598..46499746-chr21:46541735..46543969,2	K562	blood:

Variant related genes	Relation type
ENSG00000235374	Chromatin interaction
ENSG00000197381	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17004733	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2104812	0.86[CEU][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap]
rs2236702	0.85[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.89[AMR][1000 genomes]
rs2838769	0.81[YRI][hapmap]
rs3788152	0.92[CEU][hapmap];0.85[EUR][1000 genomes]
rs387097	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs57928018	0.86[AMR][1000 genomes]
rs7275998	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[YRI][hapmap];0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs729895	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73907241	0.83[AMR][1000 genomes];0.82[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs872768	SSR4P1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
5	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46530400-46548400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46531200-46542400	Weak transcription	Thymus	Thymus
10	chr21:46531400-46549600	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:46531800-46548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr21:46531800-46548200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:46531800-46548600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:46532600-46542000	Weak transcription	Fetal Thymus	thymus
15	chr21:46532600-46545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr21:46532600-46570600	Weak transcription	Dnd41	blood
18	chr21:46532800-46548400	Weak transcription	Osteobl	bone
19	chr21:46533800-46542400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:46534000-46543000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr21:46534800-46544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr21:46534800-46545200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr21:46534800-46549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:46535000-46544400	Weak transcription	Fetal Stomach	stomach
25	chr21:46535000-46545200	Weak transcription	Psoas Muscle	Psoas
26	chr21:46535200-46543400	Weak transcription	Fetal Muscle Leg	muscle
27	chr21:46535400-46542400	Weak transcription	Lung	lung
28	chr21:46535400-46542600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:46535400-46544800	Weak transcription	Spleen	Spleen
30	chr21:46535400-46545200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr21:46536000-46549000	Weak transcription	HMEC	breast
32	chr21:46536200-46546400	Weak transcription	Right Ventricle	heart
33	chr21:46536600-46545200	Strong transcription	HSMM	muscle
34	chr21:46537200-46545200	Weak transcription	Left Ventricle	heart
35	chr21:46537400-46544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:46537400-46544800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr21:46537400-46548200	Weak transcription	HUVEC	blood vessel
38	chr21:46537400-46548200	Weak transcription	NHEK	skin
39	chr21:46537600-46548200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr21:46539000-46546400	Weak transcription	Fetal Intestine Small	intestine
42	chr21:46539200-46542600	Weak transcription	Fetal Heart	heart
43	chr21:46539600-46542000	Strong transcription	Hela-S3	cervix
44	chr21:46539600-46546800	Enhancers	Colon Smooth Muscle	Colon
45	chr21:46539800-46546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:46540400-46542000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:46540600-46546800	Weak transcription	Aorta	Aorta
48	chr21:46540600-46549400	Weak transcription	Gastric	stomach
49	chr21:46540800-46543400	Weak transcription	Fetal Muscle Trunk	muscle
50	chr21:46540800-46546600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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