Variant report

Variant	rs34241237
Chromosome Location	chr21:47393429-47393430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47393205..47395473-chr21:47397498..47399697,5	K562	blood:
2	chr21:47393160..47394496-chr21:47517520..47518577,7	MCF-7	breast:
3	chr21:47393227..47394175-chr21:47566798..47568083,5	MCF-7	breast:
4	chr21:47393406..47394151-chr21:47517434..47518087,2	MCF-7	breast:
5	chr21:47393279..47394087-chr21:47517478..47517993,2	K562	blood:
6	chr21:47387372..47388982-chr21:47392168..47393871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000142173	Chromatin interaction
ENSG00000227438	Chromatin interaction
ENSG00000160282	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1005467	0.85[ASN][1000 genomes]
rs11701176	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13313848	0.83[ASN][1000 genomes]
rs1883048	0.81[ASN][1000 genomes]
rs2330329	0.89[ASN][1000 genomes]
rs2481872	0.84[ASN][1000 genomes]
rs2839075	0.85[ASN][1000 genomes]
rs364984	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3804037	0.85[ASN][1000 genomes]
rs4369960	0.89[ASN][1000 genomes]
rs4818810	0.84[ASN][1000 genomes]
rs4819177	0.82[ASN][1000 genomes]
rs71324472	0.81[ASN][1000 genomes]
rs7279116	0.82[ASN][1000 genomes]
rs9984383	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531546	chr21:46504151-47411772	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv1058665	chr21:46719445-47634282	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
3	nsv544486	chr21:46719445-47634282	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	91 gene(s)	inside rSNPs	diseases
4	nsv1059230	chr21:46956877-47907990	Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
5	nsv544491	chr21:46956877-47907990	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	n/a
6	nsv1058472	chr21:47027823-47797326	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
7	nsv544492	chr21:47027823-47797326	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	n/a
8	nsv428043	chr21:47179244-47471971	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a
9	nsv1065959	chr21:47188878-48091343	Bivalent Enhancer Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	n/a
10	nsv531580	chr21:47221774-48090317	Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	n/a
11	nsv914079	chr21:47243074-47650362	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a
12	nsv914083	chr21:47265786-47453954	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv918103	chr21:47297067-48089510	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	n/a
14	nsv869002	chr21:47297268-47963186	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	n/a
15	nsv914085	chr21:47342116-47433055	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	n/a
16	esv1848879	chr21:47343462-47455584	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
17	nsv914086	chr21:47352625-47445184	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
18	nsv914087	chr21:47352625-47453954	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
19	nsv470910	chr21:47353775-48084988	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	n/a
20	nsv914088	chr21:47358915-47419012	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
21	nsv914089	chr21:47383056-47453954	ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a
22	nsv914090	chr21:47383056-47465205	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
23	nsv914091	chr21:47383056-47483799	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	n/a
24	nsv587883	chr21:47388151-47398411	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
25	nsv587887	chr21:47388253-47398411	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
26	nsv587897	chr21:47388406-47398411	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
27	nsv587903	chr21:47388460-47398411	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
28	nsv587922	chr21:47388875-47398411	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
29	nsv587928	chr21:47389144-47398411	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
30	nsv587929	chr21:47389258-47398411	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
31	nsv587930	chr21:47389258-47423389	Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
32	nsv587931	chr21:47393268-47412660	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34241237	COL6A1	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47390200-47393800	Enhancers	Fetal Heart	heart
2	chr21:47390400-47393600	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr21:47390600-47395400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr21:47391000-47393600	Bivalent Enhancer	Stomach Mucosa	stomach
5	chr21:47391000-47394600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:47391200-47394200	Enhancers	Spleen	Spleen
7	chr21:47392000-47395200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr21:47392000-47395200	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr21:47392200-47393600	Flanking Active TSS	NHLF	lung
10	chr21:47392200-47394800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr21:47392200-47395200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr21:47392400-47393600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
13	chr21:47392400-47393600	Flanking Active TSS	Osteobl	bone
14	chr21:47392400-47393800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:47392400-47393800	Enhancers	Fetal Brain Male	brain
16	chr21:47392400-47394600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr21:47392400-47394600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr21:47392400-47394600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
19	chr21:47392400-47395000	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr21:47392400-47395200	Active TSS	Colon Smooth Muscle	Colon
21	chr21:47392400-47396800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr21:47392400-47397600	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr21:47392600-47393600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr21:47392600-47393600	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr21:47392600-47393600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
26	chr21:47392600-47393600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr21:47392600-47393600	Flanking Bivalent TSS/Enh	Thymus	Thymus
28	chr21:47392600-47394000	Active TSS	Left Ventricle	heart
29	chr21:47392600-47394200	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr21:47392600-47394200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
31	chr21:47392600-47394400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
32	chr21:47392600-47394400	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr21:47392600-47394400	Active TSS	Ovary	ovary
34	chr21:47392600-47394600	Active TSS	Aorta	Aorta
35	chr21:47392600-47394600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr21:47392600-47394800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr21:47392600-47395000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:47392600-47395200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:47392600-47395600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr21:47392600-47395600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:47392600-47395600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:47392800-47393600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:47392800-47393600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr21:47392800-47393600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr21:47392800-47393600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr21:47392800-47393600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr21:47392800-47393600	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
48	chr21:47392800-47393600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
49	chr21:47392800-47393600	Flanking Active TSS	GM12878-XiMat	blood
50	chr21:47392800-47393800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood

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