Variant report

Variant	rs968251
Chromosome Location	chr11:34655936-34655937
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34569575..34572188-chr11:34654026..34656831,2	MCF-7	breast:
2	chr11:34652609..34656733-chr11:34661493..34664204,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135373	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10768086	0.81[ASN][1000 genomes]
rs12221609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12224633	0.85[YRI][hapmap]
rs12789617	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1453382	0.85[YRI][hapmap]
rs16925885	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs16925908	1.00[YRI][hapmap]
rs16925915	0.82[MEX][hapmap];0.85[YRI][hapmap]
rs7945550	0.84[CHD][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv832117	chr11:34639008-34831199	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1045130	chr11:34641598-34777725	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1052192	chr11:34641598-34781288	ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1051492	chr11:34641598-34789331	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1052008	chr11:34641598-34794024	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv467788	chr11:34642493-34770494	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv553998	chr11:34642493-34770494	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv518807	chr11:34642493-34780936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
10	nsv519718	chr11:34642493-34780936	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv467789	chr11:34642493-34780936	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv467790	chr11:34642493-34780936	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv553999	chr11:34642493-34780936	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv554000	chr11:34643780-34780936	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
15	nsv869812	chr11:34648088-34810956	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs968251	FEM1C	trans	brain	seeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34646600-34656000	Weak transcription	Lung	lung
2	chr11:34647200-34657200	Weak transcription	Gastric	stomach
3	chr11:34652000-34656200	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr11:34652000-34661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:34653000-34656200	Enhancers	Placenta	Placenta
6	chr11:34653000-34656600	Enhancers	Osteobl	bone
7	chr11:34653000-34656800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:34653000-34658400	Enhancers	Fetal Intestine Small	intestine
9	chr11:34653200-34658200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:34653400-34656200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:34653400-34656800	Enhancers	HMEC	breast
12	chr11:34653400-34662200	Enhancers	Stomach Mucosa	stomach
13	chr11:34653600-34656600	Enhancers	Liver	Liver
14	chr11:34654000-34656600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:34654000-34658600	Weak transcription	Left Ventricle	heart
16	chr11:34654200-34661000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:34654400-34656000	Weak transcription	Psoas Muscle	Psoas
18	chr11:34654400-34656200	Enhancers	Brain Angular Gyrus	brain
19	chr11:34654400-34656200	Enhancers	Brain Cingulate Gyrus	brain
20	chr11:34654400-34657200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:34654400-34657600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:34654400-34659000	Weak transcription	Right Atrium	heart
23	chr11:34654400-34666400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:34654600-34656000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:34654600-34656000	Weak transcription	Brain Germinal Matrix	brain
26	chr11:34654600-34656200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:34654600-34656200	Enhancers	Brain Anterior Caudate	brain
28	chr11:34654600-34656200	Enhancers	Brain Hippocampus Middle	brain
29	chr11:34654600-34656200	Enhancers	Brain Substantia Nigra	brain
30	chr11:34654600-34658800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:34654600-34661000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:34654800-34656400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:34654800-34656800	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:34655000-34656000	Enhancers	NH-A	brain
35	chr11:34655000-34656200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:34655000-34656200	Enhancers	Adipose Nuclei	Adipose
37	chr11:34655000-34658000	Enhancers	Fetal Intestine Large	intestine
38	chr11:34655000-34663200	Enhancers	Pancreas	Pancrea
39	chr11:34655200-34656200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:34655200-34656200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:34655200-34656200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:34655200-34656200	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr11:34655200-34656200	Enhancers	NHLF	lung
44	chr11:34655200-34656400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr11:34655200-34656600	Enhancers	Primary B cells from peripheral blood	blood
46	chr11:34655200-34656600	Enhancers	Small Intestine	intestine
47	chr11:34655200-34656600	Enhancers	NHDF-Ad	bronchial
48	chr11:34655400-34656000	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr11:34655400-34656000	Enhancers	K562	blood
50	chr11:34655400-34656200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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