Variant report

Variant	rs10224459
Chromosome Location	chr7:138224146-138224147
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:138144722..138146775-chr7:138223356..138225636,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10216085	1.00[AMR][1000 genomes]
rs10216325	0.89[YRI][hapmap]
rs10224559	0.89[AFR][1000 genomes]
rs10226487	0.89[AFR][1000 genomes]
rs10231698	0.89[AFR][1000 genomes]
rs10232597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234810	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	0.89[AFR][1000 genomes]
rs10237069	0.89[AFR][1000 genomes]
rs10237544	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239129	0.83[AFR][1000 genomes]
rs10239202	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239932	0.89[AFR][1000 genomes]
rs10241288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	0.89[AFR][1000 genomes]
rs10245088	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248255	0.89[YRI][hapmap]
rs10248604	0.89[AFR][1000 genomes]
rs10253989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	0.89[AFR][1000 genomes]
rs10254935	0.92[AFR][1000 genomes]
rs10256094	0.89[AFR][1000 genomes]
rs10256358	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256619	0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259673	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10267577	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	0.89[AFR][1000 genomes]
rs10277465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281487	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1073255	0.89[AFR][1000 genomes]
rs13438570	0.89[AFR][1000 genomes]
rs28380017	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28392567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.89[AFR][1000 genomes]
rs28498774	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502705	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28534820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	0.89[AFR][1000 genomes]
rs28608602	0.89[AFR][1000 genomes]
rs28673291	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.89[AFR][1000 genomes]
rs28694658	0.89[AFR][1000 genomes]
rs28706910	1.00[AMR][1000 genomes]
rs28707292	0.89[AFR][1000 genomes]
rs28729263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762120	0.86[AFR][1000 genomes]
rs28764878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883144	1.00[AMR][1000 genomes]
rs3847123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847124	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329204	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947993	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138213000-138224800	Weak transcription	HSMM	muscle
2	chr7:138213000-138225000	Weak transcription	Fetal Brain Male	brain
3	chr7:138213000-138230800	Weak transcription	NHLF	lung
4	chr7:138213000-138234000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:138213000-138234800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:138213000-138235200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:138213000-138235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:138213000-138235800	Weak transcription	Brain Angular Gyrus	brain
9	chr7:138213000-138235800	Weak transcription	Pancreas	Pancrea
10	chr7:138213000-138235800	Weak transcription	NHDF-Ad	bronchial
11	chr7:138213000-138235800	Weak transcription	Osteobl	bone
12	chr7:138213000-138236800	Weak transcription	HSMMtube	muscle
13	chr7:138213000-138238600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:138213000-138239400	Weak transcription	Right Atrium	heart
15	chr7:138213000-138244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:138213200-138235800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:138213200-138235800	Weak transcription	Colon Smooth Muscle	Colon
18	chr7:138213200-138236000	Weak transcription	Right Ventricle	heart
19	chr7:138213400-138225200	Weak transcription	Brain Anterior Caudate	brain
20	chr7:138214600-138235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:138214600-138235800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:138214600-138235800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:138215800-138224400	Weak transcription	Brain Germinal Matrix	brain
24	chr7:138215800-138224800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:138215800-138235600	Weak transcription	Colonic Mucosa	Colon
26	chr7:138215800-138235800	Weak transcription	Spleen	Spleen
27	chr7:138216000-138224600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:138216200-138224600	Weak transcription	Fetal Kidney	kidney
29	chr7:138216200-138235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:138219800-138236800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:138220000-138235800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:138220200-138240400	Weak transcription	Psoas Muscle	Psoas
33	chr7:138220600-138227600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:138220600-138237200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:138220800-138227400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:138220800-138227800	Strong transcription	Liver	Liver
37	chr7:138220800-138238400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:138220800-138238400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr7:138221000-138237000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:138221200-138224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:138221200-138225600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:138221200-138227000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:138221200-138232200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr7:138221200-138234000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:138221200-138241400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:138221600-138227600	Strong transcription	Primary T cells from cord blood	blood
47	chr7:138221800-138227400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr7:138221800-138229800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:138222000-138224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:138222000-138230000	Strong transcription	Fetal Intestine Large	intestine

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