Variant report

Variant	rs312787
Chromosome Location	chr11:68120665-68120666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67979553..67982275-chr11:68120280..68122678,2	MCF-7	breast:
2	chr11:68118415..68120971-chr11:68138628..68140301,2	MCF-7	breast:
3	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
4	chr11:68120512..68122790-chr11:68146125..68148650,2	MCF-7	breast:
5	chr11:68108529..68112071-chr11:68120195..68123404,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110066	Chromatin interaction

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

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

rs_ID	r²[population]
rs170193	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs312777	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs312781	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs312793	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314760	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74743	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][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	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 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	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
3	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
4	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
5	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:68111000-68122200	Weak transcription	Small Intestine	intestine
7	chr11:68111200-68121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:68111400-68121200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:68111600-68121000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr11:68111800-68120800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:68112200-68121200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:68113400-68121200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:68113400-68125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
17	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:68114200-68125800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr11:68114400-68121000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:68114400-68125400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
22	chr11:68115000-68126200	Strong transcription	Fetal Intestine Small	intestine
23	chr11:68115200-68126000	Weak transcription	GM12878-XiMat	blood
24	chr11:68115200-68126200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:68115400-68120800	Strong transcription	Fetal Intestine Large	intestine
26	chr11:68115400-68120800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr11:68115400-68135200	Strong transcription	HepG2	liver
28	chr11:68115600-68120800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:68115800-68120800	Weak transcription	Esophagus	oesophagus
30	chr11:68115800-68121000	Weak transcription	Spleen	Spleen
31	chr11:68115800-68124000	Weak transcription	K562	blood
32	chr11:68116000-68121200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:68116600-68122400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:68116800-68123200	Enhancers	Left Ventricle	heart
35	chr11:68117200-68121800	Enhancers	Right Atrium	heart
36	chr11:68117200-68125200	Weak transcription	Primary T cells from cord blood	blood
37	chr11:68117400-68120800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:68117400-68121000	Weak transcription	Ovary	ovary
39	chr11:68117400-68121200	Enhancers	Colon Smooth Muscle	Colon
40	chr11:68117400-68121400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:68117400-68123200	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:68117400-68125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:68117600-68121000	Weak transcription	Thymus	Thymus
44	chr11:68118200-68120800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:68118600-68120800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:68118600-68121000	Weak transcription	Fetal Heart	heart
47	chr11:68118600-68121800	Weak transcription	Dnd41	blood
48	chr11:68118600-68123800	Weak transcription	Fetal Lung	lung
49	chr11:68118800-68120800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:68118800-68125000	Weak transcription	Fetal Brain Female	brain

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