Variant report

Variant	rs60618935
Chromosome Location	chr21:44790809-44790810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44788189..44792112-chr21:44793177..44796400,4	MCF-7	breast:
2	chr21:44787122..44790843-chr21:44793154..44798480,6	K562	blood:
3	chr21:44786597..44791011-chr21:44796414..44799261,3	MCF-7	breast:
4	chr21:44778477..44780291-chr21:44788253..44791187,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17004533	1.00[ASN][1000 genomes]
rs2838288	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2838289	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2838290	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2838291	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56914063	1.00[ASN][1000 genomes]
rs61520171	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7279586	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7282956	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73378287	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73909444	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935798	1.00[ASN][1000 genomes]
rs935799	1.00[ASN][1000 genomes]
rs935800	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056684	chr21:44539714-44886119	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv913831	chr21:44563995-44931821	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
3	esv1817359	chr21:44699077-44821595	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1057726	chr21:44711850-44957303	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv544466	chr21:44711850-44957303	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
6	nsv1058308	chr21:44722915-44825108	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1063186	chr21:44729904-44828476	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv544467	chr21:44729904-44828476	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv913837	chr21:44731138-44853859	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv913838	chr21:44740134-44931821	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
11	nsv913839	chr21:44750200-44931821	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
12	nsv913840	chr21:44750643-44823479	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	nsv913841	chr21:44761874-44853859	Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
14	nsv913842	chr21:44764895-44792929	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	nsv913843	chr21:44774757-44810756	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv913844	chr21:44779680-44875495	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
17	nsv913845	chr21:44781356-44874702	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
18	nsv470901	chr21:44781356-44884252	Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
19	esv3437918	chr21:44786624-44790922	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44782200-44791600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr21:44784800-44791400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr21:44785200-44791000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr21:44786200-44791200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:44787200-44791000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:44788400-44795800	Weak transcription	Spleen	Spleen
7	chr21:44788600-44794000	Enhancers	Esophagus	oesophagus
8	chr21:44788800-44791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:44788800-44791800	Enhancers	Primary B cells from peripheral blood	blood
10	chr21:44788800-44794200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr21:44788800-44795400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr21:44789000-44791000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:44789000-44791000	Enhancers	Fetal Lung	lung
14	chr21:44789000-44791200	Enhancers	NHEK	skin
15	chr21:44789000-44791400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr21:44789000-44794200	Enhancers	HMEC	breast
17	chr21:44789200-44791200	Enhancers	Fetal Brain Male	brain
18	chr21:44789400-44791000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:44789400-44791000	Enhancers	Fetal Stomach	stomach
20	chr21:44789400-44791800	Enhancers	Fetal Thymus	thymus
21	chr21:44789600-44791000	Enhancers	Brain Substantia Nigra	brain
22	chr21:44789800-44791000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:44789800-44791200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:44789800-44791800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:44790000-44791000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr21:44790000-44792000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr21:44790000-44792600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:44790200-44791000	Enhancers	Brain Anterior Caudate	brain
29	chr21:44790200-44791200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr21:44790200-44791800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr21:44790200-44792600	Enhancers	Hela-S3	cervix
32	chr21:44790400-44791000	Enhancers	Brain Hippocampus Middle	brain
33	chr21:44790400-44791000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr21:44790400-44791000	Enhancers	Fetal Intestine Large	intestine
35	chr21:44790400-44791000	Enhancers	NHDF-Ad	bronchial
36	chr21:44790400-44791200	Enhancers	Fetal Brain Female	brain
37	chr21:44790400-44791400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:44790400-44791600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr21:44790400-44791800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr21:44790400-44792000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:44790400-44794800	Enhancers	Brain Germinal Matrix	brain
42	chr21:44790400-44802600	Weak transcription	Pancreas	Pancrea
43	chr21:44790600-44791000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr21:44790600-44791000	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr21:44790600-44791400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
47	chr21:44790800-44791400	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr21:44790800-44791600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr21:44790800-44791800	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr21:44790800-44802400	Weak transcription	Brain Cingulate Gyrus	brain

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