Variant report

Variant	rs2760779
Chromosome Location	chr13:53192213-53192214
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:53028109..53029845-chr13:53190052..53193351,3	MCF-7	breast:
2	chr13:53191451..53193324-chr13:53224550..53227605,3	MCF-7	breast:
3	chr13:53189348..53193688-chr13:53225267..53228139,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165416	Chromatin interaction
ENSG00000136108	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1370081	1.00[EUR][1000 genomes]
rs1898282	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2408657	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs342771	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs342775	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs342776	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242994	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242995	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4242997	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4338683	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4477578	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4551925	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4884247	0.87[AFR][1000 genomes]
rs4884249	0.87[AFR][1000 genomes]
rs602525	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs619222	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6420307	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6561680	1.00[EUR][1000 genomes]
rs6561681	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs694014	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7324108	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7329993	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7335091	1.00[EUR][1000 genomes]
rs7338913	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7982106	1.00[EUR][1000 genomes]
rs7984073	0.81[AFR][1000 genomes]
rs7992760	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7994615	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs893069	0.87[AFR][1000 genomes]
rs9316584	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9526980	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv900086	chr13:53030565-53208030	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv820041	chr13:53061338-53280588	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1044949	chr13:53071140-53289426	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv900087	chr13:53119704-53208030	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv819201	chr13:53137490-53240330	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1044051	chr13:53139132-53287023	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
11	nsv1038942	chr13:53139132-53289426	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1039911	chr13:53139132-53303074	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 target site	20 gene(s)	inside rSNPs	diseases
13	nsv1037189	chr13:53173013-53287060	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv541775	chr13:53173013-53287060	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
15	nsv1047265	chr13:53173013-53311419	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv541776	chr13:53173013-53311419	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
18	nsv976119	chr13:53176029-53218496	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53190600-53192400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr13:53190600-53192400	Active TSS	Rectal Smooth Muscle	rectum
3	chr13:53190600-53192600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr13:53190600-53192600	Active TSS	NHDF-Ad	bronchial
5	chr13:53190800-53192400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr13:53190800-53192400	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr13:53190800-53192400	Active TSS	Left Ventricle	heart
8	chr13:53190800-53192400	Active TSS	Right Atrium	heart
9	chr13:53190800-53192400	Active TSS	Thymus	Thymus
10	chr13:53190800-53192600	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr13:53190800-53192600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr13:53190800-53192600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:53190800-53192600	Active TSS	Brain Anterior Caudate	brain
14	chr13:53190800-53192600	Active TSS	Brain Germinal Matrix	brain
15	chr13:53190800-53192600	Active TSS	Brain Hippocampus Middle	brain
16	chr13:53190800-53192600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr13:53190800-53192600	Active TSS	Fetal Lung	lung
18	chr13:53190800-53192600	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr13:53190800-53192600	Active TSS	A549	lung
20	chr13:53190800-53192600	Active TSS	HMEC	breast
21	chr13:53190800-53192600	Active TSS	K562	blood
22	chr13:53190800-53192800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:53191000-53192400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr13:53191000-53192400	Active TSS	H9 Cell Line	embryonic stem cell
25	chr13:53191000-53192400	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr13:53191000-53192400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr13:53191000-53192400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:53191000-53192400	Active TSS	Aorta	Aorta
29	chr13:53191000-53192400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:53191000-53192400	Active TSS	Brain Substantia Nigra	brain
31	chr13:53191000-53192400	Active TSS	Colonic Mucosa	Colon
32	chr13:53191000-53192400	Active TSS	Fetal Brain Female	brain
33	chr13:53191000-53192400	Active TSS	Fetal Intestine Large	intestine
34	chr13:53191000-53192400	Active TSS	Fetal Intestine Small	intestine
35	chr13:53191000-53192400	Active TSS	Lung	lung
36	chr13:53191000-53192400	Active TSS	Ovary	ovary
37	chr13:53191000-53192400	Active TSS	Psoas Muscle	Psoas
38	chr13:53191000-53192400	Active TSS	Right Ventricle	heart
39	chr13:53191000-53192400	Active TSS	GM12878-XiMat	blood
40	chr13:53191000-53192400	Active TSS	HSMM	muscle
41	chr13:53191000-53192600	Active TSS	H1 Cell Line	embryonic stem cell
42	chr13:53191000-53192600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr13:53191000-53192600	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr13:53191000-53192600	Active TSS	Muscle Satellite Cultured Cells	--
45	chr13:53191000-53192600	Active TSS	HSMMtube	muscle
46	chr13:53191000-53192600	Active TSS	NHLF	lung
47	chr13:53191000-53192800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:53191000-53192800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:53191000-53192800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr13:53191000-53192800	Active TSS	iPS-18 Cell Line	embryonic stem cell

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