Variant report

Variant	rs533851072
Chromosome Location	chr21:45211157-45211158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr21:45211072-45211273	GM12878	blood:	n/a	n/a
2	WRNIP1	chr21:45211132-45211224	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:45210944-45211228	HepG2	liver:	n/a	n/a
4	POLR2A	chr21:45211140-45211279	K562	blood:	n/a	n/a
5	POLR2A	chr21:45210847-45211383	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
2	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
3	chr21:45210899..45216228-chr21:45227595..45230862,5	MCF-7	breast:
4	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
5	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
6	chr21:45141091..45143140-chr21:45208651..45211403,2	K562	blood:
7	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
8	chr21:45210542..45212642-chr21:45354588..45357125,2	K562	blood:
9	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
10	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
11	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
12	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:

No data

Variant related genes	Relation type
RRP1	TF binding region
ENSG00000215458	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45209800-45211400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr21:45210000-45211200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr21:45210000-45211200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr21:45210000-45211200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr21:45210000-45211200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr21:45210200-45211200	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:45210200-45211200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr21:45210200-45212400	Weak transcription	Aorta	Aorta
9	chr21:45210400-45211200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr21:45210400-45211200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:45210400-45211200	Enhancers	Brain Anterior Caudate	brain
12	chr21:45210400-45211200	Enhancers	Brain Substantia Nigra	brain
13	chr21:45210400-45211200	Enhancers	Esophagus	oesophagus
14	chr21:45210400-45211200	Enhancers	Fetal Brain Male	brain
15	chr21:45210400-45211200	Genic enhancers	Fetal Stomach	stomach
16	chr21:45210400-45211200	Flanking Active TSS	GM12878-XiMat	blood
17	chr21:45210400-45211400	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:45210400-45211400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr21:45210400-45211400	Weak transcription	Gastric	stomach
20	chr21:45210400-45211400	Enhancers	Pancreas	Pancrea
21	chr21:45210400-45211400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr21:45210400-45211400	Enhancers	Small Intestine	intestine
23	chr21:45210400-45211800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr21:45210400-45211800	Weak transcription	HSMMtube	muscle
25	chr21:45210400-45216600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr21:45210400-45221000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr21:45210600-45211200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr21:45210600-45211200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr21:45210600-45211200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr21:45210600-45211200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr21:45210600-45211200	Enhancers	Brain Angular Gyrus	brain
32	chr21:45210600-45211200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:45210600-45211200	Weak transcription	Right Ventricle	heart
34	chr21:45210600-45211200	Enhancers	HUVEC	blood vessel
35	chr21:45210600-45211400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:45210600-45211400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr21:45210600-45211400	Enhancers	Adipose Nuclei	Adipose
38	chr21:45210600-45211400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr21:45210600-45211400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr21:45210600-45211400	Genic enhancers	Fetal Thymus	thymus
41	chr21:45210600-45211600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr21:45210600-45211800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr21:45210600-45211800	Weak transcription	Rectal Smooth Muscle	rectum
44	chr21:45210600-45211800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr21:45210800-45211200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr21:45210800-45211200	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr21:45210800-45211200	Enhancers	Primary B cells from cord blood	blood
48	chr21:45210800-45211200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr21:45210800-45211200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr21:45210800-45211200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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