Variant report

Variant	rs4584528
Chromosome Location	chr10:43930578-43930579
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:43930442-43930640	IMR90	lung:	n/a	n/a
2	POLR2A	chr10:43930415-43930624	HepG2	liver:	n/a	n/a
3	ZNF384	chr10:43930363-43931096	K562	blood:	n/a	n/a
4	POLR2A	chr10:43930361-43931066	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr10:43930408-43931182	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr10:43930332-43931241	K562	blood:	n/a	n/a
7	POLR2A	chr10:43930470-43930603	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:43929094..43930608-chr10:43936264..43939254,2	MCF-7	breast:
2	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
3	chr10:43913553..43915356-chr10:43929097..43931961,3	K562	blood:
4	chr10:43901784..43908257-chr10:43928243..43934263,17	MCF-7	breast:
5	chr10:43930452..43932223-chr17:43227607..43229368,2	K562	blood:
6	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
7	chr10:43901370..43906375-chr10:43928042..43934083,16	MCF-7	breast:
8	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:

No data

Variant related genes	Relation type
ZNF487	TF binding region
ENSG00000169813	Chromatin interaction
ENSG00000221400	Chromatin interaction
ENSG00000230555	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10732897	0.85[ASN][1000 genomes]
rs10751319	0.84[AMR][1000 genomes]
rs10793430	0.91[ASN][1000 genomes]
rs10793431	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899798	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899799	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11238542	0.94[ASN][1000 genomes]
rs1126487	0.91[ASN][1000 genomes]
rs12257917	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12779063	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1416226	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2066043	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2066044	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2247860	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247979	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2247981	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2248332	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2248335	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248469	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2248706	0.91[ASN][1000 genomes]
rs2250444	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2252783	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252785	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252800	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2252804	0.81[AFR][1000 genomes]
rs2255967	0.84[AFR][1000 genomes]
rs2256495	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2256613	0.91[ASN][1000 genomes]
rs2259045	0.99[ASN][1000 genomes]
rs2260162	0.99[ASN][1000 genomes]
rs2260200	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2261636	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs2261665	0.90[ASN][1000 genomes]
rs2265886	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2265887	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2265888	0.96[AFR][1000 genomes]
rs2265952	0.81[AMR][1000 genomes]
rs2265953	0.83[AMR][1000 genomes]
rs2265954	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2393954	0.91[ASN][1000 genomes]
rs2492403	0.99[ASN][1000 genomes]
rs2492404	0.84[AFR][1000 genomes]
rs2492405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492407	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2492408	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2492409	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492410	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492411	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2492412	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2493648	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2812797	0.89[ASN][1000 genomes]
rs2819021	0.96[ASN][1000 genomes]
rs2819026	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2819032	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2819034	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2999223	0.82[ASN][1000 genomes]
rs2999225	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2999276	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2999282	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2999286	0.85[AFR][1000 genomes]
rs2999287	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3000700	0.88[AFR][1000 genomes]
rs3006405	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3006408	0.89[ASN][1000 genomes]
rs3006409	0.83[ASN][1000 genomes]
rs3750890	0.89[ASN][1000 genomes]
rs4551711	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4559639	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4597022	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4948726	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs56059584	0.84[AFR][1000 genomes]
rs61859002	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6421744	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7069214	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7070029	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7070769	0.91[ASN][1000 genomes]
rs7081729	0.93[ASN][1000 genomes]
rs7088430	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7089290	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7092599	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7894374	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7914140	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7918726	0.91[ASN][1000 genomes]
rs7920539	0.91[ASN][1000 genomes]
rs9422371	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer 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	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
7	esv3448813	chr10:43919995-43950867	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43916800-43931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr10:43916800-43931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr10:43916800-43931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:43917000-43931600	Weak transcription	Fetal Brain Female	brain
5	chr10:43917200-43930800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:43917200-43930800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr10:43917200-43931600	Weak transcription	Brain Anterior Caudate	brain
8	chr10:43917400-43930800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:43917400-43930800	Weak transcription	Brain Hippocampus Middle	brain
10	chr10:43917400-43930800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr10:43917400-43930800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr10:43917400-43931600	Weak transcription	Brain Angular Gyrus	brain
13	chr10:43917600-43930800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr10:43917600-43930800	Weak transcription	Fetal Muscle Leg	muscle
15	chr10:43917600-43931600	Weak transcription	Right Ventricle	heart
16	chr10:43920200-43931600	Weak transcription	Fetal Lung	lung
17	chr10:43921800-43931200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr10:43922800-43930600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr10:43923400-43931000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr10:43923600-43931400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr10:43923800-43931600	Weak transcription	Primary T cells from cord blood	blood
22	chr10:43924600-43930600	Weak transcription	Fetal Intestine Large	intestine
23	chr10:43925800-43931600	Weak transcription	Left Ventricle	heart
24	chr10:43926000-43931000	Weak transcription	Adipose Nuclei	Adipose
25	chr10:43926000-43931000	Weak transcription	Placenta	Placenta
26	chr10:43926400-43931400	Weak transcription	Colonic Mucosa	Colon
27	chr10:43926800-43930600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr10:43927200-43931000	Weak transcription	HSMM	muscle
29	chr10:43927800-43931400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:43928200-43930600	Weak transcription	Primary B cells from cord blood	blood
31	chr10:43928200-43930600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr10:43928200-43931000	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr10:43928800-43931600	Weak transcription	Fetal Intestine Small	intestine
34	chr10:43929400-43931600	Weak transcription	Fetal Stomach	stomach
35	chr10:43929800-43931600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:43929800-43931600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr10:43930000-43931600	Weak transcription	NHDF-Ad	bronchial
38	chr10:43930200-43930800	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr10:43930400-43930600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr10:43930400-43930600	Enhancers	A549	lung
41	chr10:43930400-43930600	Genic enhancers	K562	blood
42	chr10:43930400-43930800	Enhancers	Liver	Liver
43	chr10:43930400-43931000	Enhancers	Brain Cingulate Gyrus	brain
44	chr10:43930400-43931000	Enhancers	Brain Substantia Nigra	brain
45	chr10:43930400-43931000	Enhancers	Stomach Smooth Muscle	stomach
46	chr10:43930400-43931000	Enhancers	Dnd41	blood
47	chr10:43930400-43931000	Enhancers	HepG2	liver
48	chr10:43930400-43931200	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr10:43930400-43931400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr10:43930400-43931400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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