Variant report

Variant	rs7130038
Chromosome Location	chr11:71171911-71171912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71159580..71163175-chr11:71169801..71173356,4	MCF-7	breast:
2	chr11:71170457..71172341-chr11:71179212..71180985,2	K562	blood:
3	chr11:71171741..71174523-chr11:71191219..71193247,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction
ENSG00000254682	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10450661	0.81[AFR][1000 genomes]
rs12270619	0.84[AFR][1000 genomes]
rs12280295	0.84[AFR][1000 genomes]
rs12284909	0.84[AFR][1000 genomes]
rs12286997	0.84[AFR][1000 genomes]
rs17161531	0.81[AFR][1000 genomes]
rs56869016	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57696920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57990658	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59601821	0.81[AFR][1000 genomes]
rs7123872	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129788	0.88[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7131218	0.80[YRI][hapmap];0.83[AFR][1000 genomes]
rs7950991	0.81[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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:71165200-71177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
5	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
6	chr11:71165800-71172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:71165800-71173000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:71165800-71174000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:71165800-71175800	Strong transcription	Fetal Muscle Trunk	muscle
10	chr11:71165800-71178200	Strong transcription	NHLF	lung
11	chr11:71165800-71178400	Strong transcription	Fetal Stomach	stomach
12	chr11:71165800-71179200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:71165800-71179200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr11:71165800-71179200	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:71165800-71180400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:71166000-71172000	Strong transcription	Fetal Brain Female	brain
18	chr11:71166000-71173000	Strong transcription	Osteobl	bone
19	chr11:71166000-71173600	Strong transcription	HSMM	muscle
20	chr11:71166000-71173800	Strong transcription	Brain Substantia Nigra	brain
21	chr11:71166000-71175400	Strong transcription	Brain Cingulate Gyrus	brain
22	chr11:71166000-71175600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:71166000-71176000	Strong transcription	Brain Anterior Caudate	brain
24	chr11:71166000-71178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:71166000-71178600	Strong transcription	Primary T cells from cord blood	blood
26	chr11:71166000-71178600	Strong transcription	Spleen	Spleen
27	chr11:71166000-71179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:71166000-71180000	Strong transcription	A549	lung
29	chr11:71166000-71180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:71166000-71180200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
32	chr11:71166200-71172000	Strong transcription	Primary hematopoietic stem cells	blood
33	chr11:71166200-71172000	Strong transcription	HSMMtube	muscle
34	chr11:71166200-71172200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr11:71166200-71172200	Strong transcription	HepG2	liver
36	chr11:71166200-71172400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr11:71166200-71172800	Strong transcription	NHDF-Ad	bronchial
38	chr11:71166200-71173200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:71166200-71173400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:71166200-71173400	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr11:71166200-71173600	Strong transcription	Brain Hippocampus Middle	brain
42	chr11:71166200-71173600	Strong transcription	Left Ventricle	heart
43	chr11:71166200-71173800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:71166200-71175200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:71166200-71175200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr11:71166200-71175200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:71166200-71175200	Strong transcription	Right Ventricle	heart
48	chr11:71166200-71175200	Strong transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:71166200-71175400	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:71166200-71175600	Strong transcription	Fetal Thymus	thymus

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