Variant report

Variant	rs7552283
Chromosome Location	chr1:10529433-10529434
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	chr1:10526639..10529989-chr1:10530348..10533408,3	K562	blood:
2	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:

Variant related genes	Relation type
ENSG00000160049	Chromatin interaction
ENSG00000142655	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17035111	1.00[AMR][1000 genomes]
rs17035116	1.00[AMR][1000 genomes]
rs17035217	1.00[AMR][1000 genomes]
rs17035313	1.00[MEX][hapmap]
rs41274484	1.00[AMR][1000 genomes]
rs56696283	1.00[AMR][1000 genomes]
rs57249989	1.00[AMR][1000 genomes]
rs57269205	1.00[AMR][1000 genomes]
rs61367470	1.00[AMR][1000 genomes]
rs7532322	1.00[MEX][hapmap]

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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7552283	ACSF3	trans	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10499200-10531400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10510600-10531600	Weak transcription	Right Atrium	heart
3	chr1:10511600-10531600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:10512400-10531200	Weak transcription	Fetal Brain Male	brain
5	chr1:10516000-10530200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:10516000-10530200	Strong transcription	Fetal Stomach	stomach
7	chr1:10516800-10530200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr1:10516800-10530400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:10517000-10529800	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr1:10517400-10531600	Weak transcription	Fetal Heart	heart
11	chr1:10517600-10529600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:10517800-10530400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:10518000-10529600	Strong transcription	H9 Cell Line	embryonic stem cell
14	chr1:10518000-10529600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:10518000-10530400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:10518200-10530200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:10519000-10529800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:10519200-10529600	Strong transcription	Thymus	Thymus
19	chr1:10519600-10530600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:10519800-10531400	Weak transcription	Stomach Mucosa	stomach
21	chr1:10520000-10531200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:10520000-10531400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:10520200-10531200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:10520400-10529600	Strong transcription	Brain Hippocampus Middle	brain
25	chr1:10520400-10530000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:10520600-10529600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:10520600-10530200	Strong transcription	Fetal Intestine Small	intestine
28	chr1:10520600-10530400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:10521000-10529600	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:10521000-10529600	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:10521000-10529600	Strong transcription	Dnd41	blood
32	chr1:10521000-10529800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:10521000-10530200	Strong transcription	Placenta	Placenta
34	chr1:10521200-10529600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:10521200-10529600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:10521200-10529600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr1:10521200-10529600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr1:10521200-10529600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:10521200-10529600	Strong transcription	Adipose Nuclei	Adipose
40	chr1:10521200-10529600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr1:10521200-10529600	Strong transcription	Spleen	Spleen
42	chr1:10521200-10529800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:10521200-10529800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:10521200-10530200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:10521200-10530400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:10521200-10531200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:10521400-10529600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:10521400-10529600	Strong transcription	Primary B cells from cord blood	blood
49	chr1:10521400-10529600	Strong transcription	Primary T cells from cord blood	blood
50	chr1:10521400-10529600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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