Variant report

Variant	rs10514849
Chromosome Location	chr13:49117567-49117568
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49106673..49108535-chr13:49114144..49118573,5	MCF-7	breast:
2	chr13:49116019..49118411-chr13:49119146..49122086,2	K562	blood:
3	chr13:49113085..49114630-chr13:49116071..49118855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6561458	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7334197	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7337273	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486831	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486843	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7986425	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7986868	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987757	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7989249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7989406	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9331969	0.81[AFR][1000 genomes]
rs9331972	0.81[AFR][1000 genomes]
rs9331976	0.81[AFR][1000 genomes]
rs9331978	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49115800-49118400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:49115800-49118400	Enhancers	Fetal Heart	heart
3	chr13:49116200-49117600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:49116200-49117600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr13:49116400-49117600	Enhancers	Colon Smooth Muscle	Colon
6	chr13:49116400-49117600	Enhancers	HSMMtube	muscle
7	chr13:49116600-49117600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:49116600-49117600	Enhancers	GM12878-XiMat	blood
9	chr13:49116800-49117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr13:49117200-49117600	Enhancers	Adipose Nuclei	Adipose
11	chr13:49117200-49117600	Enhancers	Brain Angular Gyrus	brain
12	chr13:49117200-49117600	Enhancers	Ovary	ovary
13	chr13:49117200-49117600	Enhancers	Rectal Smooth Muscle	rectum
14	chr13:49117200-49117600	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr13:49117200-49117600	Enhancers	Dnd41	blood
16	chr13:49117200-49118200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr13:49117200-49118200	Weak transcription	Fetal Stomach	stomach
18	chr13:49117200-49124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr13:49117400-49117600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:49117400-49117600	Enhancers	Fetal Kidney	kidney
21	chr13:49117400-49117600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr13:49117400-49117600	Enhancers	HepG2	liver
23	chr13:49117400-49117600	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr13:49117400-49118600	Weak transcription	Fetal Muscle Leg	muscle
25	chr13:49117400-49118600	Weak transcription	Psoas Muscle	Psoas
26	chr13:49117400-49119000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:49117400-49121800	Weak transcription	Liver	Liver

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