Variant report

Variant	rs7115301
Chromosome Location	chr11:102211426-102211427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:102211420..102213123-chr11:102213221..102214860,2	K562	blood:
2	chr11:102209962..102211970-chr11:102224645..102226168,2	MCF-7	breast:
3	chr11:102141370..102144181-chr11:102209739..102211821,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1055088	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes]
rs12794864	0.88[AFR][1000 genomes]
rs13711	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs33945990	0.90[AFR][1000 genomes]
rs3460	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs34740624	1.00[ASW][hapmap];0.96[LWK][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes]
rs3740932	0.84[CHB][hapmap]
rs3758841	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3903273	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[EUR][1000 genomes]
rs61895370	0.90[AFR][1000 genomes]
rs7124969	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[EUR][1000 genomes]
rs7127583	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7928663	0.81[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	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
rs7115301	MMP7	cis	parietal	SCAN
rs7115301	C11orf70	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102188800-102216600	Weak transcription	HSMMtube	muscle
2	chr11:102189400-102216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:102189400-102216800	Weak transcription	Right Ventricle	heart
4	chr11:102191200-102216800	Weak transcription	Aorta	Aorta
5	chr11:102191200-102217400	Weak transcription	Esophagus	oesophagus
6	chr11:102191600-102216600	Weak transcription	Brain Anterior Caudate	brain
7	chr11:102191800-102212600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:102194600-102212600	Weak transcription	Dnd41	blood
9	chr11:102196000-102212200	Weak transcription	Hela-S3	cervix
10	chr11:102198400-102217400	Weak transcription	Gastric	stomach
11	chr11:102200000-102216600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:102201600-102216600	Weak transcription	Colonic Mucosa	Colon
13	chr11:102202000-102212400	Weak transcription	HSMM	muscle
14	chr11:102203200-102212200	Weak transcription	Stomach Mucosa	stomach
15	chr11:102203200-102216000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:102203600-102212200	Weak transcription	A549	lung
17	chr11:102203600-102212400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:102203600-102212600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:102203600-102214600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:102203600-102216600	Weak transcription	Adipose Nuclei	Adipose
21	chr11:102203600-102216600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:102203600-102217400	Weak transcription	Spleen	Spleen
23	chr11:102203800-102212200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:102203800-102212200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:102204400-102216600	Weak transcription	Small Intestine	intestine
26	chr11:102204400-102216800	Weak transcription	Pancreas	Pancrea
27	chr11:102204800-102212600	Weak transcription	Thymus	Thymus
28	chr11:102207000-102212400	Weak transcription	NHEK	skin
29	chr11:102207200-102216600	Weak transcription	Left Ventricle	heart
30	chr11:102208000-102214600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:102208600-102216600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:102208800-102214200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr11:102209000-102216400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:102209000-102216400	Weak transcription	Colon Smooth Muscle	Colon
35	chr11:102209200-102216600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:102209200-102216800	Weak transcription	Liver	Liver
37	chr11:102209400-102212400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:102209400-102212400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:102209400-102212400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr11:102209400-102215600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:102209400-102217400	Weak transcription	Lung	lung
42	chr11:102209600-102212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:102209600-102212200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:102209600-102212400	Weak transcription	GM12878-XiMat	blood
45	chr11:102209600-102216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:102209600-102216800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr11:102209800-102212000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:102209800-102212400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:102209800-102216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr11:102209800-102216800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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