Variant report

Variant	rs73355491
Chromosome Location	chr21:17115047-17115048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17114779..17116844-chr21:17137074..17138622,2	K562	blood:
2	chr21:17101726..17104048-chr21:17113202..17115443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155313	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11908733	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909513	1.00[AMR][1000 genomes]
rs11910291	1.00[AMR][1000 genomes]
rs11910940	1.00[AMR][1000 genomes]
rs11911155	1.00[AMR][1000 genomes]
rs16990721	1.00[AMR][1000 genomes]
rs16990739	1.00[AMR][1000 genomes]
rs16990800	1.00[AMR][1000 genomes]
rs16991283	1.00[AMR][1000 genomes]
rs60305922	1.00[AMR][1000 genomes]
rs7278387	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7279840	1.00[AMR][1000 genomes]
rs73355473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73355475	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8133076	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762093	chr21:16948663-17145770	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1064683	chr21:16954570-17145758	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv459099	chr21:16956866-17145011	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv587076	chr21:16956866-17145011	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1062105	chr21:16956885-17141961	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv544380	chr21:16956885-17141961	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1059500	chr21:16957752-17145758	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1815433	chr21:17106192-17167353	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17104600-17123400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr21:17105400-17115200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr21:17105400-17119400	Weak transcription	Brain Angular Gyrus	brain
5	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
6	chr21:17106400-17115200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr21:17106600-17116600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr21:17106800-17115200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:17108800-17115200	Enhancers	HUVEC	blood vessel
10	chr21:17109400-17121000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:17111600-17117800	Enhancers	K562	blood
12	chr21:17111800-17115200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr21:17111800-17115200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr21:17112000-17115400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr21:17112200-17115400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr21:17112400-17116200	Weak transcription	Primary T cells from cord blood	blood
17	chr21:17112600-17118000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr21:17112800-17123400	Weak transcription	Brain Hippocampus Middle	brain
19	chr21:17113400-17116200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:17113400-17116600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr21:17113400-17118200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:17113400-17123600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:17113400-17124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr21:17113600-17115200	Enhancers	Adipose Nuclei	Adipose
25	chr21:17113600-17115200	Enhancers	Colon Smooth Muscle	Colon
26	chr21:17113600-17116400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:17113600-17116600	Enhancers	HepG2	liver
28	chr21:17113800-17115200	Enhancers	Liver	Liver
29	chr21:17113800-17115200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr21:17114000-17115200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:17114000-17115200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr21:17114000-17115600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:17114200-17121400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr21:17114400-17115200	Enhancers	Small Intestine	intestine
35	chr21:17114400-17115400	Enhancers	Psoas Muscle	Psoas
36	chr21:17114400-17115400	Enhancers	Right Atrium	heart
37	chr21:17114400-17115600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:17114400-17115800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr21:17114400-17115800	Enhancers	Ovary	ovary
40	chr21:17114400-17116400	ZNF genes & repeats	GM12878-XiMat	blood
41	chr21:17114400-17116600	ZNF genes & repeats	Brain Germinal Matrix	brain
42	chr21:17114400-17116600	Enhancers	Gastric	stomach
43	chr21:17114400-17117000	Enhancers	Pancreas	Pancrea
44	chr21:17114400-17121400	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr21:17114600-17115200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr21:17114600-17115400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr21:17114600-17115400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:17114600-17115400	Genic enhancers	A549	lung
49	chr21:17114600-17116600	Enhancers	Right Ventricle	heart
50	chr21:17114600-17116600	Enhancers	Stomach Smooth Muscle	stomach

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