Variant report

Variant	rs753452
Chromosome Location	chr3:51432392-51432393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:51431727..51434714-chr3:51452155..51454713,2	K562	blood:
2	chr3:51432016..51433899-chr3:51699483..51701969,2	MCF-7	breast:
3	chr3:51428575..51432934-chr3:51531325..51537191,8	K562	blood:
4	chr3:51431570..51433213-chr3:51447794..51449393,2	K562	blood:
5	chr3:50652754..50655473-chr3:51429609..51433416,3	MCF-7	breast:
6	chr3:51430737..51433070-chr3:51447893..51450283,2	K562	blood:
7	chr3:51429653..51435090-chr3:51454270..51458499,6	MCF-7	breast:
8	chr3:51431316..51433012-chr3:51532838..51535046,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145041	Chromatin interaction
ENSG00000114738	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12487468	0.94[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs12495561	0.90[YRI][hapmap]
rs1480366	1.00[ASW][hapmap];0.88[LWK][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes]
rs17051685	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17051799	1.00[ASW][hapmap];1.00[ASN][1000 genomes]
rs17051802	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2170177	1.00[ASW][hapmap];0.88[LWK][hapmap];0.91[YRI][hapmap]
rs28653367	1.00[ASN][1000 genomes]
rs4974112	1.00[ASW][hapmap];0.94[LWK][hapmap];0.91[YRI][hapmap]
rs57019473	0.84[AFR][1000 genomes]
rs58807639	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72945711	0.89[AFR][1000 genomes]
rs72945738	0.91[AFR][1000 genomes]
rs72951474	0.82[AFR][1000 genomes]
rs72951478	0.80[AFR][1000 genomes]
rs880477	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs9827665	1.00[ASN][1000 genomes]
rs9840331	1.00[ASN][1000 genomes]
rs9858497	1.00[ASN][1000 genomes]
rs9864213	1.00[ASN][1000 genomes]
rs9880909	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005858	chr3:51090373-51444027	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv536569	chr3:51090373-51444027	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer 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	53 gene(s)	inside rSNPs	diseases
4	nsv460536	chr3:51395571-51469107	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv590276	chr3:51395571-51469107	Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv590277	chr3:51408051-51474418	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs753452	HEMK1	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51429600-51432400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
2	chr3:51429600-51432400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:51429600-51432600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:51429600-51432600	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr3:51429600-51432600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
6	chr3:51429600-51435000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr3:51429800-51432800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
8	chr3:51430000-51433000	Enhancers	Right Atrium	heart
9	chr3:51430000-51433200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:51430000-51433200	Genic enhancers	Brain Inferior Temporal Lobe	brain
11	chr3:51430000-51433200	Genic enhancers	Placenta	Placenta
12	chr3:51430000-51433600	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr3:51430000-51434000	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr3:51430000-51434000	Genic enhancers	Fetal Stomach	stomach
15	chr3:51430000-51434200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:51430000-51434200	Genic enhancers	Gastric	stomach
17	chr3:51430000-51434400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:51430000-51434400	Genic enhancers	Spleen	Spleen
19	chr3:51430000-51435200	Genic enhancers	Left Ventricle	heart
20	chr3:51430000-51435200	Genic enhancers	Lung	lung
21	chr3:51430200-51432400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:51430200-51432400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:51430200-51432400	Genic enhancers	Liver	Liver
24	chr3:51430200-51432400	Genic enhancers	Brain Anterior Caudate	brain
25	chr3:51430200-51432600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr3:51430200-51432600	Genic enhancers	Stomach Mucosa	stomach
27	chr3:51430200-51433000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr3:51430200-51433200	Genic enhancers	Fetal Lung	lung
29	chr3:51430200-51433400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr3:51430200-51434000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr3:51430200-51434000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:51430200-51434000	Genic enhancers	Colon Smooth Muscle	Colon
33	chr3:51430200-51434200	Genic enhancers	Fetal Muscle Leg	muscle
34	chr3:51430200-51434200	Genic enhancers	HUVEC	blood vessel
35	chr3:51430200-51435200	Genic enhancers	Adipose Nuclei	Adipose
36	chr3:51430200-51437000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr3:51430200-51437200	Strong transcription	Aorta	Aorta
38	chr3:51430200-51457000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:51430400-51432400	Genic enhancers	Osteobl	bone
40	chr3:51430400-51433200	Genic enhancers	Brain Angular Gyrus	brain
41	chr3:51430400-51433400	Genic enhancers	Primary T cells from cord blood	blood
42	chr3:51430400-51434000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:51430400-51434000	Genic enhancers	Pancreas	Pancrea
44	chr3:51430400-51434200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr3:51430400-51434600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
46	chr3:51430400-51435200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr3:51430400-51437200	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:51430400-51438000	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr3:51430400-51438200	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr3:51430400-51440400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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