Variant report

Variant	rs9974076
Chromosome Location	chr21:45228227-45228228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45226367..45233141-chr21:45284145..45288607,11	K562	blood:
2	chr21:45228155..45231014-chr21:45339166..45342042,3	K562	blood:
3	chr21:45210899..45216228-chr21:45227595..45230862,5	MCF-7	breast:
4	chr21:45224876..45229128-chr21:45393312..45396699,5	K562	blood:
5	chr21:45225967..45228845-chr21:45233717..45236389,2	MCF-7	breast:
6	chr21:45227106..45228998-chr21:45231812..45234774,3	MCF-7	breast:
7	chr21:45226284..45237567-chr21:45281864..45289573,19	K562	blood:
8	chr21:45227143..45228681-chr21:45304105..45305818,2	K562	blood:
9	chr21:45227305..45229714-chr21:45393817..45396583,3	K562	blood:
10	chr21:45147115..45149530-chr21:45227966..45229533,2	K562	blood:
11	chr21:45227991..45230203-chr21:45396778..45398676,2	K562	blood:
12	chr21:45227383..45229683-chr21:45532546..45534512,2	K562	blood:
13	chr21:45209254..45211192-chr21:45228221..45230192,2	MCF-7	breast:
14	chr21:45227701..45229997-chr21:45280310..45283557,3	K562	blood:
15	chr21:45225840..45228634-chr21:45360679..45363193,2	K562	blood:
16	chr21:45227343..45230131-chr21:45535363..45538238,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction
ENSG00000199598	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160214	Chromatin interaction
ENSG00000241945	Chromatin interaction
ENSG00000215458	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs2838459	1.00[EUR][1000 genomes]
rs2838463	1.00[EUR][1000 genomes]
rs28490099	1.00[EUR][1000 genomes]
rs28581805	1.00[EUR][1000 genomes]
rs57815996	1.00[EUR][1000 genomes]
rs59339575	1.00[EUR][1000 genomes]
rs61299327	1.00[EUR][1000 genomes]
rs6383	1.00[EUR][1000 genomes]
rs73906694	1.00[EUR][1000 genomes]
rs73906696	1.00[EUR][1000 genomes]
rs73908377	1.00[EUR][1000 genomes]
rs73908383	1.00[EUR][1000 genomes]
rs8127335	1.00[EUR][1000 genomes]
rs8129408	1.00[EUR][1000 genomes]
rs8129421	1.00[EUR][1000 genomes]
rs8132097	1.00[EUR][1000 genomes]
rs8132862	1.00[EUR][1000 genomes]
rs9680153	1.00[EUR][1000 genomes]
rs9976939	1.00[EUR][1000 genomes]
rs9978334	1.00[EUR][1000 genomes]
rs9979923	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs9984929	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv587718	chr21:45210932-45252838	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1065007	chr21:45212880-45257959	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
19	nsv544470	chr21:45212880-45257959	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv459292	chr21:45218440-45269841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
21	nsv587719	chr21:45218440-45269841	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	nsv522204	chr21:45220483-45246326	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913886	chr21:45220483-45267193	Active TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45211000-45229200	Strong transcription	Fetal Intestine Small	intestine
2	chr21:45211000-45230400	Weak transcription	Stomach Mucosa	stomach
3	chr21:45211000-45257200	Weak transcription	Right Atrium	heart
4	chr21:45211200-45229400	Strong transcription	Fetal Stomach	stomach
5	chr21:45211200-45230600	Weak transcription	Fetal Brain Male	brain
6	chr21:45215400-45230800	Weak transcription	Small Intestine	intestine
7	chr21:45217200-45228600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:45217600-45230600	Weak transcription	NHDF-Ad	bronchial
9	chr21:45218400-45230600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:45218800-45230600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr21:45219400-45230600	Weak transcription	HUVEC	blood vessel
12	chr21:45219600-45230400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr21:45221800-45230600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr21:45221800-45234200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:45222000-45230800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr21:45222400-45230800	Weak transcription	NH-A	brain
17	chr21:45223200-45231000	Weak transcription	HSMM	muscle
18	chr21:45223400-45230600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:45223400-45230800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr21:45223400-45230800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr21:45223600-45230600	Weak transcription	Brain Angular Gyrus	brain
22	chr21:45223600-45231000	Weak transcription	Psoas Muscle	Psoas
23	chr21:45223800-45230400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr21:45223800-45230400	Weak transcription	Colon Smooth Muscle	Colon
25	chr21:45224000-45228800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:45224000-45230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr21:45224000-45230600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:45224000-45230600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr21:45224200-45230200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:45224200-45230600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr21:45224200-45230600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:45224200-45230600	Weak transcription	Fetal Lung	lung
33	chr21:45224200-45230800	Weak transcription	Osteobl	bone
34	chr21:45224400-45228800	Weak transcription	Thymus	Thymus
35	chr21:45224400-45230400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr21:45224400-45230400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr21:45224600-45228600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr21:45224600-45229400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr21:45224600-45229400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:45224600-45230400	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr21:45224600-45230600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr21:45224600-45230600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr21:45224600-45230600	Weak transcription	Brain Substantia Nigra	brain
44	chr21:45224600-45230600	Weak transcription	Left Ventricle	heart
45	chr21:45224600-45231000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr21:45224600-45232200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:45224600-45234600	Weak transcription	Hela-S3	cervix
48	chr21:45224800-45229200	Weak transcription	Ovary	ovary
49	chr21:45224800-45229400	Weak transcription	Placenta	Placenta
50	chr21:45224800-45230200	Weak transcription	Colonic Mucosa	Colon

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