Variant report

Variant	rs17075849
Chromosome Location	chr13:52195914-52195915
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52024726..52028383-chr13:52193377..52195964,3	K562	blood:
2	chr13:52194627..52196438-chr13:52199246..52202202,2	K562	blood:

Variant related genes	Relation type
ENSG00000236778	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000224892	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1058141	0.82[CEU][hapmap];0.84[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs1058142	0.84[YRI][hapmap]
rs10676	0.95[AMR][1000 genomes]
rs12427805	0.82[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12428478	0.82[CEU][hapmap];0.88[AMR][1000 genomes]
rs12430600	0.82[CEU][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs12430760	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12431173	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17069413	1.00[CEU][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17531181	0.82[CEU][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2011276	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs2296027	0.82[CEU][hapmap];0.95[AMR][1000 genomes]
rs2408491	0.82[CEU][hapmap];0.94[YRI][hapmap];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	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7329391	0.93[AMR][1000 genomes]
rs74086223	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7985214	0.87[AMR][1000 genomes]
rs8001480	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9526795	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs9568662	0.81[YRI][hapmap];0.93[AMR][1000 genomes]
rs9596530	0.85[CEU][hapmap]
rs9596572	0.82[CEU][hapmap];0.84[YRI][hapmap];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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52188800-52197000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:52188800-52199200	Weak transcription	Liver	Liver
3	chr13:52189000-52197400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr13:52189000-52197800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:52189200-52196200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:52189200-52196200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:52189200-52197200	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:52189400-52197200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:52189400-52197200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr13:52189400-52205600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr13:52189400-52206600	Weak transcription	Primary B cells from cord blood	blood
12	chr13:52189400-52208800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr13:52190400-52196200	Enhancers	Fetal Heart	heart
14	chr13:52190400-52205000	Enhancers	NHDF-Ad	bronchial
15	chr13:52190600-52196800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr13:52191400-52201400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:52191600-52196400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr13:52191600-52197600	Enhancers	Brain Cingulate Gyrus	brain
19	chr13:52191600-52201200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:52192200-52196600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:52192200-52196800	Enhancers	Brain Anterior Caudate	brain
22	chr13:52192200-52196800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr13:52192200-52204800	Enhancers	Brain Substantia Nigra	brain
24	chr13:52192400-52204000	Enhancers	HSMMtube	muscle
25	chr13:52192800-52196400	Enhancers	Fetal Muscle Leg	muscle
26	chr13:52192800-52205600	Weak transcription	A549	lung
27	chr13:52193200-52196200	Weak transcription	Fetal Brain Female	brain
28	chr13:52193200-52197200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:52193200-52199600	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:52193400-52196600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr13:52193600-52196800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr13:52193600-52201800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:52194000-52197400	Weak transcription	Primary T cells from cord blood	blood
34	chr13:52194000-52197400	Weak transcription	GM12878-XiMat	blood
35	chr13:52194000-52199600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr13:52194200-52198400	Weak transcription	NHEK	skin
37	chr13:52194200-52202200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:52194200-52209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr13:52194400-52196800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr13:52194600-52196000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:52194600-52196600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr13:52194600-52196800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr13:52194600-52201200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:52194800-52197400	Weak transcription	HMEC	breast
45	chr13:52194800-52198600	Weak transcription	Psoas Muscle	Psoas
46	chr13:52194800-52199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr13:52194800-52199200	Weak transcription	Colon Smooth Muscle	Colon
48	chr13:52194800-52202200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:52194800-52205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:52194800-52217600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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