Variant report

Variant	rs35006428
Chromosome Location	chr21:45195096-45195097
allele	A/C
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45175274..45178845-chr21:45192010..45195975,4	K562	blood:
2	chr21:45088891..45092342-chr21:45193959..45195914,3	K562	blood:
3	chr21:45137876..45142347-chr21:45194759..45200624,9	MCF-7	breast:
4	chr21:45138069..45142004-chr21:45192681..45200004,8	MCF-7	breast:
5	chr21:45193334..45196312-chr21:45207752..45211007,4	MCF-7	breast:
6	chr21:45193906..45196164-chr21:45723506..45725862,2	K562	blood:
7	chr21:45137445..45140588-chr21:45195005..45197401,3	K562	blood:
8	chr21:45141572..45144183-chr21:45194386..45198670,4	K562	blood:
9	chr21:45077212..45079990-chr21:45193841..45196934,5	MCF-7	breast:
10	chr21:45139088..45141459-chr21:45195022..45196764,2	K562	blood:
11	chr21:45193472..45195191-chr21:45212602..45214337,2	K562	blood:
12	chr21:45159502..45161246-chr21:45194764..45196763,2	MCF-7	breast:
13	chr21:45151886..45156250-chr21:45192617..45197213,5	MCF-7	breast:
14	chr21:45165363..45167088-chr21:45194223..45196266,2	MCF-7	breast:
15	chr21:45194435..45196529-chr21:45430535..45433342,2	MCF-7	breast:
16	chr21:45176342..45178590-chr21:45192932..45195099,2	MCF-7	breast:
17	chr21:45077768..45080499-chr21:45194775..45197148,2	MCF-7	breast:
18	chr21:45173075..45175705-chr21:45194787..45196904,2	MCF-7	breast:
19	chr21:45192905..45195528-chr21:45235425..45238416,2	MCF-7	breast:
20	chr20:31035184..31037651-chr21:45194680..45196817,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160214	Chromatin interaction
ENSG00000160209	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000236772	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160207	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11910393	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13046607	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1537119	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2096856	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2186926	0.81[EUR][1000 genomes]
rs2329573	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2329574	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2329577	0.82[EUR][1000 genomes]
rs2329578	0.82[EUR][1000 genomes]
rs2329579	0.83[EUR][1000 genomes]
rs2838371	0.81[AMR][1000 genomes]
rs2838378	0.84[EUR][1000 genomes]
rs2838386	0.83[EUR][1000 genomes]
rs2838387	0.83[EUR][1000 genomes]
rs28419384	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28464905	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4818868	0.83[EUR][1000 genomes]
rs6518322	0.83[EUR][1000 genomes]
rs6518324	0.83[EUR][1000 genomes]
rs731935	0.84[EUR][1000 genomes]
rs762408	0.83[EUR][1000 genomes]
rs8128720	0.83[EUR][1000 genomes]
rs9985006	0.83[EUR][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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs35006428	CSTB	cis	Artery Tibial	GTEx
rs35006428	CSTB	cis	Nerve Tibial	GTEx
rs35006428	CSTB	cis	Whole Blood	GTEx
rs35006428	CSTB	cis	Muscle Skeletal	GTEx
rs35006428	CSTB	cis	Thyroid	GTEx
rs35006428	CSTB	Cis_1M	lymphoblastoid	RTeQTL
rs35006428	CSTB	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45174400-45195200	Weak transcription	Psoas Muscle	Psoas
2	chr21:45177000-45195200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr21:45188600-45195200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:45192800-45195400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr21:45193000-45195400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr21:45193600-45195400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
7	chr21:45193800-45195200	Weak transcription	Small Intestine	intestine
8	chr21:45194000-45195200	Enhancers	Right Atrium	heart
9	chr21:45194000-45195400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr21:45194200-45195200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr21:45194200-45195200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr21:45194200-45195200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr21:45194200-45195200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr21:45194200-45195200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:45194200-45195200	Enhancers	Pancreas	Pancrea
16	chr21:45194400-45195200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr21:45194400-45195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:45194400-45195200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr21:45194400-45195200	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:45194400-45195200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr21:45194400-45195200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr21:45194400-45195200	Enhancers	Fetal Heart	heart
23	chr21:45194400-45195200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr21:45194400-45195400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr21:45194400-45195400	Enhancers	Fetal Brain Male	brain
26	chr21:45194600-45195200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:45194600-45195200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr21:45194600-45195200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr21:45194600-45195200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr21:45194600-45195200	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr21:45194600-45195200	Weak transcription	Aorta	Aorta
32	chr21:45194600-45195200	Enhancers	Liver	Liver
33	chr21:45194600-45195200	Enhancers	Brain Angular Gyrus	brain
34	chr21:45194600-45195200	Enhancers	Brain Cingulate Gyrus	brain
35	chr21:45194600-45195200	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr21:45194600-45195200	Active TSS	Fetal Brain Female	brain
37	chr21:45194600-45195200	Weak transcription	Ovary	ovary
38	chr21:45194600-45195200	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr21:45194600-45195200	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr21:45194600-45195200	Enhancers	Stomach Mucosa	stomach
41	chr21:45194600-45195200	Genic enhancers	K562	blood
42	chr21:45194600-45195400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr21:45194600-45195400	Enhancers	Left Ventricle	heart
44	chr21:45194600-45195400	Enhancers	Spleen	Spleen
45	chr21:45194600-45195400	Flanking Active TSS	HepG2	liver
46	chr21:45194600-45195600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr21:45194800-45195200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr21:45194800-45195200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr21:45194800-45195200	Enhancers	Primary B cells from cord blood	blood
50	chr21:45194800-45195200	Active TSS	Primary T cells from cord blood	blood

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