Variant report

Variant	rs4881530
Chromosome Location	chr10:834736-834737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:739318..742202-chr10:834057..836421,2	MCF-7	breast:
2	chr10:833990..835898-chr10:1099433..1102164,2	K562	blood:
3	chr10:733970..741093-chr10:828125..835309,12	MCF-7	breast:
4	chr10:698785..701781-chr10:833421..835495,2	MCF-7	breast:
5	chr10:657394..659426-chr10:833405..835908,2	MCF-7	breast:
6	chr10:829650..833485-chr10:834016..837949,4	MCF-7	breast:
7	chr10:461824..462560-chr10:834643..835579,2	MCF-7	breast:
8	chr10:826973..829590-chr10:832494..835604,4	K562	blood:

Variant related genes	Relation type
ENSG00000151240	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10752021	0.81[JPT][hapmap]
rs11253451	0.82[JPT][hapmap]
rs12243303	0.81[CHD][hapmap]
rs12762188	0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1536338	0.88[CHD][hapmap];0.86[JPT][hapmap]
rs1555897	0.82[JPT][hapmap]
rs2094236	0.97[ASN][1000 genomes]
rs35858541	0.89[ASN][1000 genomes]
rs3763722	0.86[CHD][hapmap]
rs4881529	0.89[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7071801	0.86[CHD][hapmap];0.82[JPT][hapmap]
rs7095043	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs750370	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs752375	0.90[JPT][hapmap]
rs7703	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs9124	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs997615	0.81[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916591	chr10:224406-1088734	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1050252	chr10:375035-839594	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv540397	chr10:375035-839594	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1048859	chr10:442805-887622	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1039958	chr10:450753-889167	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	nsv540400	chr10:450753-889167	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
8	nsv549753	chr10:458477-894838	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1044857	chr10:577396-856059	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
10	nsv540402	chr10:577396-856059	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
11	nsv528733	chr10:577444-838378	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1036675	chr10:600206-839594	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
14	nsv948602	chr10:708293-944641	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv949063	chr10:708293-974870	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
17	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
18	nsv1036316	chr10:748848-849979	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv894717	chr10:763714-834736	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv894718	chr10:763714-861390	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv1045119	chr10:766867-855251	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv1043812	chr10:776547-981126	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
23	nsv540406	chr10:776547-981126	Bivalent Enhancer Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
25	nsv948978	chr10:813426-1019115	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1048707	chr10:834439-915534	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4881530	PFKP	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:831000-834800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:831200-834800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:831200-834800	Weak transcription	Brain Angular Gyrus	brain
4	chr10:831200-834800	Weak transcription	Brain Substantia Nigra	brain
5	chr10:831200-834800	Weak transcription	Colon Smooth Muscle	Colon
6	chr10:831200-834800	Weak transcription	Right Atrium	heart
7	chr10:831200-835000	Weak transcription	Aorta	Aorta
8	chr10:831200-835000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr10:831200-835000	Weak transcription	Psoas Muscle	Psoas
10	chr10:831200-835000	Weak transcription	HUVEC	blood vessel
11	chr10:831400-834800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr10:831400-834800	Weak transcription	A549	lung
13	chr10:831400-835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr10:831400-835000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:831400-835000	Weak transcription	Brain Germinal Matrix	brain
16	chr10:831400-835000	Weak transcription	NHLF	lung
17	chr10:831400-835200	Weak transcription	Fetal Brain Female	brain
18	chr10:831400-850000	Weak transcription	Fetal Heart	heart
19	chr10:831600-834800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr10:831600-835000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr10:831600-835000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr10:831600-835600	Weak transcription	HSMMtube	muscle
23	chr10:831800-835000	Weak transcription	Fetal Brain Male	brain
24	chr10:832800-834800	Enhancers	Pancreas	Pancrea
25	chr10:832800-836600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr10:833200-835200	Enhancers	NH-A	brain
27	chr10:833600-835000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr10:833800-834800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr10:834000-834800	Bivalent Enhancer	Fetal Stomach	stomach
30	chr10:834000-835000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:834000-835000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr10:834000-835000	Enhancers	Adipose Nuclei	Adipose
33	chr10:834000-835000	Flanking Active TSS	Osteobl	bone
34	chr10:834000-835200	Enhancers	Spleen	Spleen
35	chr10:834000-835600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
36	chr10:834000-836000	Enhancers	Right Ventricle	heart
37	chr10:834200-834800	Enhancers	Esophagus	oesophagus
38	chr10:834200-834800	Enhancers	Stomach Smooth Muscle	stomach
39	chr10:834200-835000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:834200-835000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr10:834200-835000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr10:834200-835000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr10:834200-835000	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr10:834200-835000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr10:834200-835000	Enhancers	Fetal Intestine Small	intestine
46	chr10:834200-835000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr10:834200-835200	Enhancers	HSMM	muscle
48	chr10:834200-836000	Enhancers	Left Ventricle	heart
49	chr10:834400-834800	Enhancers	Colonic Mucosa	Colon
50	chr10:834400-834800	Enhancers	Duodenum Mucosa	Duodenum

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