Variant report

Variant	rs574054
Chromosome Location	chr6:114200450-114200451
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:113809247..113809874-chr6:114200355..114201347,2	MCF-7	breast:
2	chr6:114200440..114202419-chr6:114202886..114205788,3	K562	blood:
3	chr6:114200223..114202562-chr6:114240736..114243361,2	K562	blood:
4	chr6:112658194..112658798-chr6:114200352..114201312,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10214595	1.00[AMR][1000 genomes]
rs1026637	1.00[AMR][1000 genomes]
rs1026638	1.00[AMR][1000 genomes]
rs1026639	1.00[AMR][1000 genomes]
rs1031799	1.00[AMR][1000 genomes]
rs1031802	1.00[AMR][1000 genomes]
rs13437352	1.00[AMR][1000 genomes]
rs1462380	1.00[AMR][1000 genomes]
rs1462383	1.00[AMR][1000 genomes]
rs1527506	1.00[AMR][1000 genomes]
rs1841744	1.00[AMR][1000 genomes]
rs1903679	1.00[AMR][1000 genomes]
rs2018969	1.00[AMR][1000 genomes]
rs2348531	1.00[AMR][1000 genomes]
rs2615509	1.00[AMR][1000 genomes]
rs2615515	1.00[AMR][1000 genomes]
rs2615517	1.00[AMR][1000 genomes]
rs2615520	1.00[AMR][1000 genomes]
rs2615527	1.00[AMR][1000 genomes]
rs2615528	1.00[AMR][1000 genomes]
rs2695453	1.00[AMR][1000 genomes]
rs2753885	1.00[AMR][1000 genomes]
rs2810178	1.00[AMR][1000 genomes]
rs2810181	1.00[AMR][1000 genomes]
rs2810184	1.00[AMR][1000 genomes]
rs2810185	1.00[AMR][1000 genomes]
rs2810186	1.00[AMR][1000 genomes]
rs2810190	1.00[AMR][1000 genomes]
rs2810192	1.00[AMR][1000 genomes]
rs2810193	1.00[AMR][1000 genomes]
rs2810194	1.00[AMR][1000 genomes]
rs2810197	1.00[AMR][1000 genomes]
rs28679593	1.00[AMR][1000 genomes]
rs352069	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352072	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs352089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs508935	0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs569246	1.00[AMR][1000 genomes]
rs612475	1.00[AMR][1000 genomes]
rs6568808	1.00[AMR][1000 genomes]
rs9372378	1.00[AMR][1000 genomes]
rs9481397	1.00[AMR][1000 genomes]
rs9481399	1.00[AMR][1000 genomes]
rs9481401	1.00[AMR][1000 genomes]
rs9481414	1.00[AMR][1000 genomes]
rs9488261	1.00[AMR][1000 genomes]
rs9488287	1.00[AMR][1000 genomes]
rs9488310	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs574054	AHSP	trans	lymphoblastoid	seeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114194400-114202000	Weak transcription	Ovary	ovary
2	chr6:114194600-114202000	Weak transcription	Lung	lung
3	chr6:114194800-114200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr6:114199400-114200800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:114199600-114200800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:114200000-114201000	Enhancers	Osteobl	bone
7	chr6:114200000-114203800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr6:114200200-114200600	Enhancers	Stomach Mucosa	stomach
9	chr6:114200200-114200600	Enhancers	HSMMtube	muscle
10	chr6:114200200-114200600	Flanking Active TSS	HUVEC	blood vessel
11	chr6:114200200-114200800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:114200200-114200800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr6:114200200-114200800	Enhancers	HSMM	muscle
14	chr6:114200200-114201000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr6:114200200-114201000	Enhancers	Fetal Kidney	kidney
16	chr6:114200200-114201200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:114200400-114200600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:114200400-114200600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:114200400-114200600	Flanking Active TSS	Brain Hippocampus Middle	brain
20	chr6:114200400-114200600	Enhancers	Colon Smooth Muscle	Colon
21	chr6:114200400-114200600	Flanking Active TSS	Fetal Intestine Large	intestine
22	chr6:114200400-114200600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr6:114200400-114200600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:114200400-114200800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:114200400-114200800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr6:114200400-114200800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:114200400-114200800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:114200400-114200800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:114200400-114200800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:114200400-114200800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:114200400-114200800	Enhancers	Liver	Liver
32	chr6:114200400-114200800	Active TSS	Duodenum Mucosa	Duodenum
33	chr6:114200400-114200800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr6:114200400-114200800	Active TSS	Pancreatic Islets	Pancreatic Islet
35	chr6:114200400-114200800	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr6:114200400-114200800	Enhancers	HepG2	liver
37	chr6:114200400-114200800	Enhancers	NH-A	brain
38	chr6:114200400-114201000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr6:114200400-114201000	Enhancers	Fetal Lung	lung
40	chr6:114200400-114201200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:114200400-114201200	Enhancers	Adipose Nuclei	Adipose

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