Variant report

Variant	rs7532322
Chromosome Location	chr1:10530311-10530312
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr1:10530240-10530404	K562	blood:	n/a	n/a
2	CUX1	chr1:10530300-10530311	GM12878	blood:	n/a	n/a
3	RCOR1	chr1:10530162-10530432	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10528950..10534210-chr1:10534257..10537658,6	K562	blood:
2	chr1:10508957..10511140-chr1:10530246..10532667,2	K562	blood:

Variant related genes	Relation type
PEX14	TF binding region
ENSG00000142655	Chromatin interaction
ENSG00000241563	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11121574	0.91[AFR][1000 genomes]
rs11121575	0.91[AFR][1000 genomes]
rs11121576	0.88[AFR][1000 genomes]
rs11121578	0.91[AFR][1000 genomes]
rs17035313	1.00[MEX][hapmap]
rs6667629	1.00[ASW][hapmap];0.95[LWK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes]
rs7520077	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7552283	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

No data

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	chr1:10516800-10530400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:10517400-10531600	Weak transcription	Fetal Heart	heart
7	chr1:10517800-10530400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:10518000-10530400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:10519600-10530600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:10519800-10531400	Weak transcription	Stomach Mucosa	stomach
11	chr1:10520000-10531200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:10520000-10531400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:10520200-10531200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:10520600-10530400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:10521200-10530400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:10521200-10531200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:10521600-10530400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:10523600-10531200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:10523800-10531400	Weak transcription	Small Intestine	intestine
20	chr1:10524400-10530400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr1:10525000-10531200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:10525400-10531200	Weak transcription	Hela-S3	cervix
23	chr1:10526800-10531400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:10526800-10531600	Weak transcription	Fetal Kidney	kidney
25	chr1:10527600-10531200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:10528000-10530400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:10528600-10531200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr1:10528600-10531600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:10528600-10531800	Weak transcription	Aorta	Aorta
30	chr1:10529000-10531200	Weak transcription	GM12878-XiMat	blood
31	chr1:10529000-10531400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr1:10529200-10531200	Weak transcription	Brain Substantia Nigra	brain
33	chr1:10529200-10531200	Weak transcription	Fetal Thymus	thymus
34	chr1:10529200-10531400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:10529200-10531400	Weak transcription	Pancreas	Pancrea
36	chr1:10529200-10531600	Weak transcription	Colonic Mucosa	Colon
37	chr1:10529200-10531800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:10529400-10531200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:10529400-10531200	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:10529400-10531200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr1:10529400-10531200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr1:10529400-10531200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:10529400-10531200	Weak transcription	Brain Germinal Matrix	brain
44	chr1:10529400-10531200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:10529400-10531200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:10529400-10531200	Weak transcription	Fetal Lung	lung
47	chr1:10529400-10531200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:10529400-10531200	Weak transcription	HepG2	liver
49	chr1:10529400-10531200	Weak transcription	NHDF-Ad	bronchial
50	chr1:10529400-10531200	Weak transcription	NHLF	lung

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