Variant report

Variant	rs2011276
Chromosome Location	chr13:52320297-52320298
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52024578..52027294-chr13:52317199..52320461,4	K562	blood:
2	chr13:52318115..52320342-chr13:52321989..52324210,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1058141	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1058142	0.89[AFR][1000 genomes]
rs1060562	0.90[AFR][1000 genomes]
rs10676	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12427805	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12428478	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12430600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12430760	0.88[AMR][1000 genomes]
rs17069413	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs17075849	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2296027	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2408491	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4399447	0.81[AMR][1000 genomes]
rs55910561	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57280031	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57837262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59291282	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199739	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199742	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73199750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321346	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs7329391	0.95[AMR][1000 genomes]
rs74086223	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs7985214	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001480	0.88[AMR][1000 genomes]
rs9526795	0.85[AFR][1000 genomes]
rs9535754	0.83[AFR][1000 genomes]
rs9568662	0.95[AMR][1000 genomes]
rs9596572	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596573	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv455884	chr13:52302630-52405251	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv561644	chr13:52302630-52405251	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	20 gene(s)	inside rSNPs	diseases
6	nsv455887	chr13:52318522-52405251	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv561645	chr13:52318522-52405251	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52288400-52322200	Weak transcription	K562	blood
2	chr13:52296400-52322200	Weak transcription	Fetal Heart	heart
3	chr13:52298000-52322200	Weak transcription	Fetal Brain Female	brain
4	chr13:52300400-52322200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr13:52300600-52321800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:52304000-52320400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:52305000-52320400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:52305000-52338200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr13:52305200-52320400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:52305400-52321600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:52305400-52321800	Weak transcription	Gastric	stomach
12	chr13:52305800-52322000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr13:52306000-52322200	Weak transcription	Left Ventricle	heart
14	chr13:52306000-52322200	Weak transcription	Right Ventricle	heart
15	chr13:52306200-52321400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr13:52306200-52339000	Weak transcription	Fetal Kidney	kidney
17	chr13:52306400-52320400	Weak transcription	Aorta	Aorta
18	chr13:52308000-52322200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:52308200-52322200	Weak transcription	Stomach Mucosa	stomach
20	chr13:52308200-52342800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr13:52308400-52321000	Weak transcription	Fetal Intestine Small	intestine
22	chr13:52308400-52326800	Weak transcription	Hela-S3	cervix
23	chr13:52308600-52321000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr13:52309800-52320600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:52309800-52322200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr13:52310000-52321800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:52312000-52321400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr13:52312600-52322200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr13:52312800-52320400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:52312800-52321400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:52313000-52321000	Strong transcription	Primary B cells from peripheral blood	blood
32	chr13:52313000-52321000	Strong transcription	Primary T cells from cord blood	blood
33	chr13:52313400-52321600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr13:52313800-52320600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:52314000-52321800	Strong transcription	HSMM	muscle
36	chr13:52314000-52322600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:52314200-52320400	Weak transcription	Dnd41	blood
38	chr13:52314200-52322200	Weak transcription	A549	lung
39	chr13:52314200-52326600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr13:52314400-52322000	Weak transcription	NHLF	lung
41	chr13:52314600-52320400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:52314600-52320400	Weak transcription	GM12878-XiMat	blood
43	chr13:52314600-52321800	Weak transcription	Esophagus	oesophagus
44	chr13:52314600-52322200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:52314800-52321600	Weak transcription	NH-A	brain
46	chr13:52315000-52322000	Weak transcription	Fetal Intestine Large	intestine
47	chr13:52315200-52321200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr13:52315200-52322000	Weak transcription	NHDF-Ad	bronchial
49	chr13:52315200-52327000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr13:52315400-52321800	Weak transcription	Fetal Lung	lung

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