Variant report

Variant	rs74086223
Chromosome Location	chr13:52201004-52201005
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52194627..52196438-chr13:52199246..52202202,2	K562	blood:
2	chr13:52023768..52028038-chr13:52196089..52202067,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1058141	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs10676	0.95[AMR][1000 genomes]
rs12427805	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12428478	0.88[AMR][1000 genomes]
rs12430600	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12430760	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12431173	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17069413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17075849	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531181	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2011276	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2296027	0.95[AMR][1000 genomes]
rs2408491	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs4399447	0.83[AMR][1000 genomes]
rs55910561	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs57280031	0.82[AMR][1000 genomes]
rs57837262	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs59291282	0.96[AMR][1000 genomes]
rs73199739	0.88[AMR][1000 genomes]
rs73199742	0.89[AMR][1000 genomes]
rs73199750	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs7321346	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7329391	0.93[AMR][1000 genomes]
rs7985214	0.87[AMR][1000 genomes]
rs8001480	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9526795	0.81[AFR][1000 genomes]
rs9568662	0.93[AMR][1000 genomes]
rs9596572	0.96[AMR][1000 genomes]
rs9596573	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52189400-52205600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:52189400-52206600	Weak transcription	Primary B cells from cord blood	blood
3	chr13:52189400-52208800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr13:52190400-52205000	Enhancers	NHDF-Ad	bronchial
5	chr13:52191400-52201400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:52191600-52201200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:52192200-52204800	Enhancers	Brain Substantia Nigra	brain
8	chr13:52192400-52204000	Enhancers	HSMMtube	muscle
9	chr13:52192800-52205600	Weak transcription	A549	lung
10	chr13:52193600-52201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:52194200-52202200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:52194200-52209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr13:52194600-52201200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:52194800-52202200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:52194800-52205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:52194800-52217600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:52195000-52202200	Weak transcription	Spleen	Spleen
18	chr13:52195000-52202400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr13:52195000-52205600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:52195400-52201400	Enhancers	HepG2	liver
21	chr13:52196000-52207200	Weak transcription	Lung	lung
22	chr13:52196200-52201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:52196200-52201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr13:52196600-52202600	Weak transcription	Fetal Brain Female	brain
25	chr13:52196600-52206800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr13:52196800-52202200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr13:52196800-52206200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr13:52196800-52206400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr13:52197400-52201200	Enhancers	Osteobl	bone
30	chr13:52197400-52201400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:52197400-52202800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:52197600-52212400	Weak transcription	Fetal Kidney	kidney
33	chr13:52197800-52202400	Weak transcription	Thymus	Thymus
34	chr13:52197800-52203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr13:52197800-52203800	Enhancers	Brain Anterior Caudate	brain
36	chr13:52197800-52206600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr13:52198000-52201600	Enhancers	Fetal Muscle Leg	muscle
38	chr13:52198000-52203200	Weak transcription	Primary T cells from cord blood	blood
39	chr13:52198000-52206600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr13:52198000-52209400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr13:52198400-52201400	Enhancers	NHEK	skin
42	chr13:52198400-52201600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr13:52198400-52202000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr13:52198400-52203200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr13:52198400-52204200	Weak transcription	NHLF	lung
46	chr13:52198600-52201200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:52198600-52201400	Enhancers	HMEC	breast
48	chr13:52198600-52202400	Enhancers	Brain Cingulate Gyrus	brain
49	chr13:52198600-52217600	Weak transcription	Fetal Thymus	thymus
50	chr13:52198800-52201600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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