Variant report

Variant	rs11673961
Chromosome Location	chr2:21134922-21134923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:21134659..21137623-chr2:21141359..21143238,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10188503	0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10207315	0.81[AFR][1000 genomes]
rs11673955	1.00[ASN][1000 genomes]
rs11692595	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902301	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710746	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992919	1.00[ASN][1000 genomes]
rs12995733	1.00[ASN][1000 genomes]
rs12998321	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12999597	1.00[ASN][1000 genomes]
rs13009577	1.00[ASN][1000 genomes]
rs13010638	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018819	1.00[ASN][1000 genomes]
rs13410454	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469513	0.82[LWK][hapmap]
rs28545158	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34504815	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34645675	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35088798	1.00[ASN][1000 genomes]
rs36143367	1.00[ASN][1000 genomes]
rs3923672	1.00[ASN][1000 genomes]
rs4362515	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6713732	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715637	1.00[ASN][1000 genomes]
rs6731768	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741714	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs693	0.95[LWK][hapmap];0.81[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	nsv455841	chr2:21086693-21135577	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv581168	chr2:21086693-21135577	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv455852	chr2:21125742-21143329	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv581169	chr2:21125742-21143329	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11673961	SMC6	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21130000-21135800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:21131200-21136400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:21131600-21136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:21131600-21136600	Weak transcription	NHEK	skin
5	chr2:21131800-21137000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:21133000-21135200	Enhancers	Colon Smooth Muscle	Colon
7	chr2:21133000-21135200	Enhancers	Rectal Smooth Muscle	rectum
8	chr2:21133000-21136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:21133400-21136800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:21133400-21149400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:21134400-21135200	Enhancers	Gastric	stomach
12	chr2:21134400-21135600	Enhancers	Ovary	ovary
13	chr2:21134400-21135600	Enhancers	Stomach Mucosa	stomach
14	chr2:21134600-21135200	Enhancers	Fetal Muscle Trunk	muscle
15	chr2:21134800-21135600	Bivalent Enhancer	HepG2	liver

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