Variant report

Variant	rs8127711
Chromosome Location	chr21:37768410-37768411
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	chr21:37768410-37768515	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37760537..37763773-chr21:37766105..37771017,5	K562	blood:

Variant related genes	Relation type
CHAF1B	TF binding region
ENSG00000224421	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1063308	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17814122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1906487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56299925	1.00[ASN][1000 genomes]
rs61741099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202277	1.00[ASN][1000 genomes]
rs8127277	1.00[ASN][1000 genomes]
rs8127746	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8128974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8129295	1.00[ASN][1000 genomes]
rs8130294	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37758400-37772000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr21:37758400-37772000	Weak transcription	Ovary	ovary
3	chr21:37758400-37788000	Weak transcription	Colonic Mucosa	Colon
4	chr21:37758400-37792200	Weak transcription	Fetal Kidney	kidney
5	chr21:37758400-37793400	Weak transcription	Aorta	Aorta
6	chr21:37758400-37794600	Weak transcription	Left Ventricle	heart
7	chr21:37758400-37794800	Weak transcription	Right Ventricle	heart
8	chr21:37758600-37769000	Weak transcription	Osteobl	bone
9	chr21:37758600-37770000	Weak transcription	Fetal Intestine Small	intestine
10	chr21:37758600-37773000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:37758600-37774600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:37758600-37774600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:37758600-37774800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr21:37758600-37774800	Weak transcription	NHDF-Ad	bronchial
15	chr21:37758600-37775200	Weak transcription	Primary T cells from cord blood	blood
16	chr21:37758600-37777400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr21:37758600-37777600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:37758600-37780400	Weak transcription	HUVEC	blood vessel
19	chr21:37758600-37783600	Weak transcription	Brain Germinal Matrix	brain
20	chr21:37758600-37783800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr21:37758600-37783800	Weak transcription	Spleen	Spleen
22	chr21:37758600-37785000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr21:37758600-37785000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr21:37758600-37785600	Weak transcription	Adipose Nuclei	Adipose
25	chr21:37758600-37787400	Weak transcription	Primary B cells from cord blood	blood
26	chr21:37758600-37790600	Weak transcription	Brain Anterior Caudate	brain
27	chr21:37758600-37790800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr21:37758600-37791000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr21:37758600-37793400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr21:37758600-37794200	Weak transcription	Liver	Liver
31	chr21:37758600-37797600	Weak transcription	HSMM	muscle
32	chr21:37758800-37771400	Weak transcription	NHLF	lung
33	chr21:37758800-37771600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:37758800-37773000	Weak transcription	Esophagus	oesophagus
35	chr21:37758800-37774600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr21:37758800-37774600	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr21:37758800-37775000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:37758800-37775000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr21:37758800-37780400	Weak transcription	Fetal Lung	lung
40	chr21:37758800-37785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:37758800-37785200	Weak transcription	Pancreas	Pancrea
42	chr21:37758800-37785400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr21:37758800-37795000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr21:37759000-37769000	Weak transcription	HMEC	breast
45	chr21:37759000-37774400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr21:37759000-37780400	Weak transcription	Hela-S3	cervix
47	chr21:37761200-37775800	Weak transcription	HSMMtube	muscle
48	chr21:37761400-37774600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:37761400-37775600	Weak transcription	Brain Substantia Nigra	brain
50	chr21:37761600-37770800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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