Variant report

Variant	rs11909837
Chromosome Location	chr21:40559912-40559913
allele	A/C
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	chr21:40558219-40560950	GM12891	blood:	n/a	n/a
2	POLR2A	chr21:40559903-40560036	K562	blood:	n/a	n/a
3	POLR2A	chr21:40559755-40561242	MCF-7	breast:	n/a	n/a
4	POLR2A	chr21:40554825-40571524	K562	blood:	n/a	n/a
5	POLR2A	chr21:40559742-40560054	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	21:40559845-40561759..21:40757151-40764378	GM12878	blood:
2	chr21:40553805..40558800-chr21:40559314..40564731,10	MCF-7	breast:
3	chr21:40551398..40560769-chr21:40565658..40576445,18	K562	blood:

Variant related genes	Relation type
PSMG1	TF binding region
ENSG00000272991	Chromatin interaction
ENSG00000183527	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11909263	1.00[AFR][1000 genomes]
rs11909443	1.00[YRI][hapmap]
rs11910576	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11911245	0.83[AFR][1000 genomes]
rs11911709	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs11911944	1.00[AFR][1000 genomes]
rs2836976	1.00[YRI][hapmap]
rs7275380	1.00[YRI][hapmap]
rs7276914	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7277870	0.83[AFR][1000 genomes]
rs7279424	0.91[AFR][1000 genomes]
rs7279749	0.87[AFR][1000 genomes]
rs8130185	0.87[AFR][1000 genomes]
rs8132308	0.83[AFR][1000 genomes]
rs8132471	0.96[AFR][1000 genomes]
rs9305669	1.00[ASW][hapmap];1.00[YRI][hapmap]

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	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40556200-40562600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr21:40556200-40567800	Weak transcription	Left Ventricle	heart
3	chr21:40556200-40568600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr21:40556200-40568800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:40556200-40570200	Weak transcription	Stomach Mucosa	stomach
6	chr21:40556200-40570800	Weak transcription	Small Intestine	intestine
7	chr21:40556200-40571000	Weak transcription	Lung	lung
8	chr21:40556200-40571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:40556200-40576600	Weak transcription	Esophagus	oesophagus
10	chr21:40556200-40576600	Weak transcription	Pancreas	Pancrea
11	chr21:40556200-40602600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr21:40556400-40566000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr21:40556400-40568400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:40556400-40568400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:40556400-40568800	Weak transcription	Psoas Muscle	Psoas
16	chr21:40556400-40571000	Weak transcription	Ovary	ovary
17	chr21:40556600-40561800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:40556600-40563000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr21:40556600-40563000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr21:40556600-40563000	Weak transcription	Placenta	Placenta
21	chr21:40556600-40564600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr21:40556600-40565400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr21:40556600-40565800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr21:40556600-40565800	Weak transcription	Fetal Thymus	thymus
25	chr21:40556600-40566000	Weak transcription	Fetal Brain Female	brain
26	chr21:40556600-40566400	Weak transcription	Fetal Muscle Leg	muscle
27	chr21:40556600-40566600	Weak transcription	Fetal Muscle Trunk	muscle
28	chr21:40556600-40566800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr21:40556600-40567400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr21:40556600-40568200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:40556600-40568200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:40556600-40568200	Weak transcription	Brain Angular Gyrus	brain
33	chr21:40556600-40568200	Weak transcription	Brain Germinal Matrix	brain
34	chr21:40556600-40568200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr21:40556600-40568200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr21:40556600-40568400	Weak transcription	Brain Cingulate Gyrus	brain
37	chr21:40556600-40568600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr21:40556600-40568800	Weak transcription	Aorta	Aorta
39	chr21:40556600-40570400	Weak transcription	Colonic Mucosa	Colon
40	chr21:40556600-40571000	Weak transcription	Fetal Stomach	stomach
41	chr21:40556600-40576600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:40556800-40561800	Weak transcription	NH-A	brain
43	chr21:40556800-40563400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr21:40556800-40564200	Weak transcription	Fetal Intestine Large	intestine
45	chr21:40556800-40565000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:40556800-40565400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:40556800-40565600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr21:40556800-40566000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr21:40556800-40566000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:40556800-40566200	Weak transcription	Primary B cells from cord blood	blood

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