Variant report

Variant	rs1107121
Chromosome Location	chr21:46127549-46127550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46121061..46122694-chr21:46126965..46128571,2	MCF-7	breast:
2	chr21:46127002..46129520-chr21:46147214..46149765,2	MCF-7	breast:
3	chr21:46123174..46125281-chr21:46125754..46127602,2	K562	blood:
4	chr21:46126774..46129621-chr21:46133926..46136280,3	MCF-7	breast:
5	chr21:46126963..46129627-chr21:46155691..46157710,2	MCF-7	breast:
6	chr21:46004403..46006273-chr21:46126860..46128813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236382	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11702093	0.84[ASN][1000 genomes]
rs2838654	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs2838655	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8133996	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878127	0.94[ASN][1000 genomes]
rs9978932	0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs9984899	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1107121	NCRNA00175	cis	parietal	SCAN
rs1107121	COL6A1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46122800-46129400	Weak transcription	Right Atrium	heart
2	chr21:46125800-46128400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr21:46126000-46129000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr21:46126000-46129400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr21:46126000-46132600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr21:46126200-46127600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr21:46126200-46128600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr21:46126200-46132000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr21:46126400-46132800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr21:46126600-46128000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr21:46126600-46128200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr21:46126600-46128600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:46126800-46127800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
14	chr21:46126800-46128200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:46126800-46129400	Weak transcription	Pancreas	Pancrea
16	chr21:46127000-46128600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr21:46127200-46127800	Enhancers	Spleen	Spleen
18	chr21:46127200-46128000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:46127400-46127600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:46127400-46127600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr21:46127400-46128000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr21:46127400-46128000	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
23	chr21:46127400-46130000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:46127400-46131800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
25	chr21:46127400-46132000	Bivalent Enhancer	Fetal Muscle Leg	muscle

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