Variant report

Variant	rs9984290
Chromosome Location	chr21:46219287-46219288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:46217908-46219811	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46218606..46224662-chr21:46357422..46363606,13	MCF-7	breast:
2	chr21:46218558..46223428-chr21:46289542..46296056,15	MCF-7	breast:
3	chr21:46218586..46220158-chr21:46274953..46276818,2	K562	blood:
4	chr21:46218496..46222154-chr21:46279503..46283710,3	MCF-7	breast:
5	chr21:46213336..46214943-chr21:46217277..46219676,2	MCF-7	breast:
6	chr21:46217105..46224485-chr21:46287607..46297526,26	MCF-7	breast:
7	chr21:46216948..46220007-chr21:46331452..46334687,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236519	TF binding region
ENSG00000160256	Chromatin interaction
ENSG00000183250	Chromatin interaction
ENSG00000160255	Chromatin interaction
ENSG00000183255	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13433413	0.89[AFR][1000 genomes]
rs17004684	1.00[MEX][hapmap]
rs2838676	0.96[YRI][hapmap]
rs2838677	0.89[YRI][hapmap]
rs2838681	0.85[ASW][hapmap];0.81[LWK][hapmap];0.96[YRI][hapmap]
rs2838683	1.00[YRI][hapmap]
rs2838697	0.89[LWK][hapmap]
rs73372511	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9978131	0.81[LWK][hapmap];0.93[YRI][hapmap]
rs9981344	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46189000-46221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:46195000-46219800	Weak transcription	Small Intestine	intestine
3	chr21:46195400-46220400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:46197200-46220400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr21:46198800-46219600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr21:46198800-46220000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:46198800-46220000	Weak transcription	Fetal Kidney	kidney
8	chr21:46200000-46220400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr21:46201200-46220400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:46203400-46220000	Weak transcription	Fetal Brain Female	brain
11	chr21:46205200-46220400	Weak transcription	Aorta	Aorta
12	chr21:46205200-46220800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:46206200-46219800	Weak transcription	Right Ventricle	heart
14	chr21:46206200-46220000	Weak transcription	Brain Germinal Matrix	brain
15	chr21:46206400-46220000	Weak transcription	Brain Hippocampus Middle	brain
16	chr21:46206800-46220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr21:46210000-46220000	Weak transcription	Fetal Brain Male	brain
18	chr21:46210200-46220000	Weak transcription	NH-A	brain
19	chr21:46211600-46220400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr21:46211800-46220400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr21:46212000-46220000	Weak transcription	Lung	lung
22	chr21:46212000-46220400	Weak transcription	Colonic Mucosa	Colon
23	chr21:46212400-46220400	Weak transcription	Spleen	Spleen
24	chr21:46212600-46219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr21:46213400-46219400	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:46213400-46219400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr21:46213400-46219600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr21:46213400-46219600	Weak transcription	Psoas Muscle	Psoas
29	chr21:46213400-46219800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr21:46213400-46219800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr21:46213400-46219800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr21:46213400-46219800	Weak transcription	Brain Substantia Nigra	brain
33	chr21:46213400-46219800	Weak transcription	Fetal Heart	heart
34	chr21:46213400-46219800	Weak transcription	Pancreas	Pancrea
35	chr21:46213400-46219800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr21:46213400-46219800	Weak transcription	HSMMtube	muscle
37	chr21:46213400-46220000	Weak transcription	Esophagus	oesophagus
38	chr21:46213400-46220000	Weak transcription	Right Atrium	heart
39	chr21:46213400-46220200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:46213400-46220400	Weak transcription	Brain Angular Gyrus	brain
41	chr21:46214000-46219800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr21:46214000-46219800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr21:46214000-46219800	Weak transcription	NHDF-Ad	bronchial
44	chr21:46214200-46219600	Weak transcription	Fetal Intestine Small	intestine
45	chr21:46214200-46220400	Weak transcription	Gastric	stomach
46	chr21:46215400-46219400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr21:46215400-46219800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr21:46215400-46219800	Strong transcription	NHEK	skin
49	chr21:46215600-46219400	Strong transcription	Primary B cells from peripheral blood	blood
50	chr21:46215600-46219400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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