Variant report

Variant	rs58001317
Chromosome Location	chr11:68117940-68117941
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68114086..68116989-chr11:68117295..68119405,4	K562	blood:
2	chr11:68113645..68115715-chr11:68116724..68119590,2	MCF-7	breast:
3	chr11:68116764..68118383-chr11:68120873..68123073,2	K562	blood:
4	chr11:68116698..68120092-chr11:68121944..68124842,3	MCF-7	breast:
5	chr11:68107929..68111362-chr11:68116810..68118643,3	MCF-7	breast:
6	chr11:68113675..68115970-chr11:68117419..68119405,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12280773	1.00[ASN][1000 genomes]
rs28369501	1.00[ASN][1000 genomes]
rs28670727	1.00[ASN][1000 genomes]
rs60240146	1.00[ASN][1000 genomes]
rs60487218	1.00[ASN][1000 genomes]
rs656583	1.00[ASN][1000 genomes]
rs73513022	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	esv3358277	chr11:68116926-68119724	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68104600-68119600	Enhancers	Liver	Liver
3	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
4	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
5	chr11:68109200-68119800	Weak transcription	Hela-S3	cervix
6	chr11:68110200-68118200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:68110800-68119200	Weak transcription	NH-A	brain
9	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:68111000-68122200	Weak transcription	Small Intestine	intestine
11	chr11:68111200-68118200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:68111200-68120400	Weak transcription	HSMM	muscle
13	chr11:68111200-68121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:68111400-68121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:68111600-68118200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:68111600-68121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:68111800-68120600	Weak transcription	NHEK	skin
20	chr11:68111800-68120800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:68112000-68120200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:68112200-68121200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr11:68113400-68119600	Weak transcription	A549	lung
24	chr11:68113400-68121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr11:68113400-68125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
27	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:68114200-68119600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:68114200-68120600	Weak transcription	Osteobl	bone
30	chr11:68114200-68125800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:68114400-68119400	Weak transcription	Fetal Thymus	thymus
32	chr11:68114400-68121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:68114400-68125400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:68114600-68118000	Weak transcription	Fetal Heart	heart
35	chr11:68114600-68120400	Weak transcription	HMEC	breast
36	chr11:68114800-68118800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:68114800-68119200	Strong transcription	Fetal Stomach	stomach
38	chr11:68114800-68120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:68114800-68120400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:68114800-68120600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
42	chr11:68115000-68118600	Strong transcription	Dnd41	blood
43	chr11:68115000-68120000	Weak transcription	HSMMtube	muscle
44	chr11:68115000-68126200	Strong transcription	Fetal Intestine Small	intestine
45	chr11:68115200-68118200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:68115200-68119400	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr11:68115200-68126000	Weak transcription	GM12878-XiMat	blood
48	chr11:68115200-68126200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:68115400-68118200	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:68115400-68118800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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