Variant report

Variant	rs73906608
Chromosome Location	chr21:45198160-45198161
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr21:45198060-45198248	K562	blood:	n/a	n/a
2	POLR2A	chr21:45198072-45198197	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45147195..45149472-chr21:45196303..45198972,2	K562	blood:
2	chr21:45195296..45199656-chr21:45201104..45204314,12	MCF-7	breast:
3	chr21:45178045..45180449-chr21:45196494..45198346,2	MCF-7	breast:
4	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
5	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
6	chr21:45141572..45144183-chr21:45194386..45198670,4	K562	blood:

No data

Variant related genes	Relation type
CSTB	TF binding region
TMEM97P1	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000234030	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1136075	1.00[AMR][1000 genomes]
rs55865152	1.00[AMR][1000 genomes]
rs56307626	1.00[AMR][1000 genomes]
rs57619381	1.00[AMR][1000 genomes]
rs58866868	1.00[AMR][1000 genomes]
rs59095908	1.00[AMR][1000 genomes]
rs60910278	1.00[AMR][1000 genomes]
rs73906612	1.00[AMR][1000 genomes]
rs73906613	1.00[AMR][1000 genomes]
rs73906617	1.00[AMR][1000 genomes]
rs73906620	1.00[AMR][1000 genomes]
rs73906621	1.00[AMR][1000 genomes]
rs73906622	1.00[AMR][1000 genomes]
rs73906623	1.00[AMR][1000 genomes]
rs73906624	1.00[AMR][1000 genomes]
rs73906625	1.00[AMR][1000 genomes]
rs73906626	1.00[AMR][1000 genomes]
rs73906627	1.00[AMR][1000 genomes]
rs73906630	1.00[AMR][1000 genomes]
rs73906633	1.00[AMR][1000 genomes]
rs73906635	1.00[AMR][1000 genomes]
rs73906636	1.00[AMR][1000 genomes]
rs73906638	1.00[AMR][1000 genomes]
rs73906643	1.00[AMR][1000 genomes]
rs73906650	1.00[AMR][1000 genomes]
rs73906656	1.00[AMR][1000 genomes]
rs73906660	1.00[AMR][1000 genomes]
rs73906662	1.00[AMR][1000 genomes]
rs73906663	1.00[AMR][1000 genomes]
rs73906665	1.00[AMR][1000 genomes]
rs73906666	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv1055154	chr21:45148076-45203162	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45196200-45198200	Weak transcription	Stomach Mucosa	stomach
2	chr21:45196200-45198600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:45196800-45198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr21:45196800-45198200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr21:45196800-45198200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:45196800-45198200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:45196800-45198200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:45196800-45198200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr21:45196800-45198200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:45196800-45198200	Weak transcription	Brain Substantia Nigra	brain
11	chr21:45196800-45198400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:45196800-45198400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr21:45196800-45198400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr21:45196800-45198400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:45196800-45198400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr21:45196800-45198400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr21:45196800-45198400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr21:45196800-45198400	Weak transcription	Hela-S3	cervix
19	chr21:45196800-45198400	Weak transcription	HSMM	muscle
20	chr21:45196800-45198600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:45196800-45198600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr21:45196800-45198600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr21:45196800-45198600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr21:45196800-45198600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45196800-45198600	Weak transcription	Adipose Nuclei	Adipose
26	chr21:45196800-45198600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr21:45196800-45198600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr21:45196800-45198600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr21:45196800-45198600	Weak transcription	Spleen	Spleen
30	chr21:45196800-45198600	Weak transcription	NH-A	brain
31	chr21:45196800-45199400	Enhancers	Primary T cells fromperipheralblood	blood
32	chr21:45196800-45199600	Weak transcription	Right Ventricle	heart
33	chr21:45196800-45199800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr21:45196800-45200600	Weak transcription	NHEK	skin
35	chr21:45196800-45201000	Weak transcription	Fetal Intestine Large	intestine
36	chr21:45196800-45202000	Weak transcription	Liver	Liver
37	chr21:45196800-45203000	Weak transcription	Lung	lung
38	chr21:45196800-45206400	Weak transcription	Gastric	stomach
39	chr21:45196800-45206400	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr21:45196800-45208800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr21:45196800-45209000	Weak transcription	Aorta	Aorta
42	chr21:45197000-45198200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:45197000-45198200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:45197000-45198200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr21:45197000-45198200	Weak transcription	Primary B cells from cord blood	blood
46	chr21:45197000-45198200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr21:45197000-45198200	Weak transcription	Brain Hippocampus Middle	brain
48	chr21:45197000-45198200	Weak transcription	Colonic Mucosa	Colon
49	chr21:45197000-45198200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr21:45197000-45198200	Weak transcription	Fetal Intestine Small	intestine

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