Variant report

Variant	rs901906
Chromosome Location	chr11:45582468-45582469
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45582261..45584715-chr11:45587319..45589536,2	K562	blood:
2	chr11:45167444..45169774-chr11:45581988..45584250,2	MCF-7	breast:
3	chr11:45582261..45584351-chr11:45587015..45588819,2	K562	blood:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1027102	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1027105	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10742761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1488678	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1488679	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1488681	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275586	0.85[CHB][hapmap];0.83[CHD][hapmap];0.86[MEX][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275587	0.85[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275588	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275589	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275590	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275591	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275592	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275593	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs275594	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6485633	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7396878	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs901906	MTCH2	cis	parietal	SCAN
rs901906	CHST1	cis	parietal	SCAN

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45580600-45584200	Enhancers	Fetal Muscle Leg	muscle
2	chr11:45581200-45583200	Enhancers	Fetal Stomach	stomach
3	chr11:45581400-45582600	Enhancers	Right Ventricle	heart
4	chr11:45581400-45583200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:45581400-45584000	Enhancers	Fetal Brain Male	brain
6	chr11:45581600-45582600	Enhancers	Fetal Lung	lung
7	chr11:45581600-45582600	Enhancers	Ovary	ovary
8	chr11:45581600-45582600	Enhancers	Right Atrium	heart
9	chr11:45581800-45582600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:45581800-45582600	Enhancers	Fetal Brain Female	brain
11	chr11:45581800-45582600	Enhancers	Left Ventricle	heart
12	chr11:45581800-45582600	Enhancers	Spleen	Spleen
13	chr11:45581800-45582600	Enhancers	HSMM	muscle
14	chr11:45581800-45583000	Enhancers	HSMMtube	muscle
15	chr11:45582000-45582600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:45582000-45582600	Enhancers	Fetal Intestine Small	intestine
17	chr11:45582000-45582600	Enhancers	Psoas Muscle	Psoas
18	chr11:45582000-45582800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:45582000-45583000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:45582000-45583400	Enhancers	Brain Germinal Matrix	brain
21	chr11:45582200-45582600	Enhancers	Brain Substantia Nigra	brain
22	chr11:45582200-45582600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr11:45582200-45582600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:45582200-45583000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:45582200-45584800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr11:45582200-45584800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:45582200-45585000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:45582200-45585200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:45582200-45585200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:45582400-45582600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr11:45582400-45582800	Enhancers	Brain Angular Gyrus	brain

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