Variant report

Variant	rs73376506
Chromosome Location	chr21:46323951-46323952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46323939..46326504-chr21:46345234..46347580,2	K562	blood:
2	chr21:46320135..46322797-chr21:46323413..46327575,5	K562	blood:
3	chr21:46291446..46293976-chr21:46322203..46327064,4	MCF-7	breast:
4	chr21:46236410..46239097-chr21:46320402..46324022,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183255	Chromatin interaction
ENSG00000184900	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2026881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73374592	1.00[AMR][1000 genomes]
rs73374602	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73376519	1.00[AMR][1000 genomes]
rs73376524	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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	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
3	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
4	nsv1056513	chr21:46254075-46442759	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv913969	chr21:46279505-46472929	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv470908	chr21:46298869-46335580	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv913970	chr21:46305175-46487831	Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv933240	chr21:46305956-46371518	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv913974	chr21:46306161-46430792	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv913975	chr21:46306161-46459432	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
11	nsv913976	chr21:46306161-46487831	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv459302	chr21:46311264-46327835	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
13	nsv587817	chr21:46311264-46327835	Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
14	nsv834110	chr21:46316183-46505151	Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
15	nsv1064518	chr21:46317690-46413159	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46295600-46338800	Weak transcription	Right Atrium	heart
2	chr21:46298400-46326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:46305400-46325000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr21:46313800-46324800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr21:46313800-46326600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr21:46313800-46326800	Strong transcription	Fetal Thymus	thymus
7	chr21:46314400-46330200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr21:46314600-46324800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr21:46316000-46324400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr21:46316400-46324000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:46316600-46327200	Strong transcription	Primary T cells from cord blood	blood
12	chr21:46317200-46324800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
13	chr21:46317600-46324200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
14	chr21:46317800-46324200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:46317800-46325400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr21:46318200-46325000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr21:46318200-46327200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr21:46318400-46325000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr21:46318400-46325000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:46318600-46324600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr21:46319400-46325800	Weak transcription	Fetal Intestine Small	intestine
22	chr21:46319600-46326800	Genic enhancers	Spleen	Spleen
23	chr21:46320000-46326200	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:46320000-46331000	Weak transcription	Brain Substantia Nigra	brain
25	chr21:46321000-46326400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr21:46322000-46331400	Genic enhancers	Primary monocytes fromperipheralblood	blood
27	chr21:46322200-46324400	Weak transcription	Brain Angular Gyrus	brain
28	chr21:46322200-46327200	Genic enhancers	Primary neutrophils fromperipheralblood	blood
29	chr21:46322600-46324200	Weak transcription	Fetal Kidney	kidney
30	chr21:46322600-46328600	Weak transcription	Liver	Liver
31	chr21:46322600-46330400	Weak transcription	HSMMtube	muscle
32	chr21:46322600-46330800	Genic enhancers	Primary T cells fromperipheralblood	blood
33	chr21:46322800-46324200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:46322800-46324200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr21:46322800-46324200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr21:46322800-46324200	Weak transcription	Pancreas	Pancrea
37	chr21:46322800-46324400	Weak transcription	HepG2	liver
38	chr21:46322800-46324600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:46322800-46326200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr21:46322800-46326200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr21:46322800-46327400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr21:46322800-46327400	Genic enhancers	Monocytes-CD14+_RO01746	blood
43	chr21:46322800-46327600	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr21:46322800-46329400	Strong transcription	Dnd41	blood
45	chr21:46322800-46330200	Weak transcription	HSMM	muscle
46	chr21:46322800-46330600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr21:46322800-46330600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr21:46322800-46330800	Weak transcription	Brain Anterior Caudate	brain
49	chr21:46323000-46324400	ZNF genes & repeats	Thymus	Thymus
50	chr21:46323000-46325200	Weak transcription	Colonic Mucosa	Colon

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