Variant report

Variant	rs62285074
Chromosome Location	chr3:156242649-156242650
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr3:156242442-156242763	K562	blood:	n/a	n/a
2	CEBPD	chr3:156242396-156242854	K562	blood:	n/a	n/a
3	IKZF1	chr3:156242599-156242739	GM12878	blood:	n/a	n/a
4	CEBPB	chr3:156242291-156242749	K562	blood:	n/a	n/a
5	TEAD4	chr3:156242356-156242876	K562	blood:	n/a	n/a
6	ZNF384	chr3:156242397-156242787	GM12878	blood:	n/a	n/a
7	ATF1	chr3:156242452-156242680	K562	blood:	n/a	n/a
8	GATA2	chr3:156242355-156242783	K562	blood:	n/a	n/a
9	TEAD4	chr3:156242434-156242778	K562	blood:	n/a	n/a
10	RUNX3	chr3:156242369-156242878	GM12878	blood:	n/a	n/a
11	CEBPB	chr3:156242303-156242675	K562	blood:	n/a	n/a
12	ZNF384	chr3:156242385-156242807	K562	blood:	n/a	n/a
13	EP300	chr3:156242554-156242755	K562	blood:	n/a	n/a
14	NR2F2	chr3:156242452-156242813	K562	blood:	n/a	n/a
15	RCOR1	chr3:156242489-156242762	K562	blood:	n/a	n/a
16	JUND	chr3:156242449-156242670	K562	blood:	n/a	n/a
17	RUNX3	chr3:156242459-156242824	GM12878	blood:	n/a	n/a
18	RCOR1	chr3:156242403-156242823	K562	blood:	n/a	n/a
19	ATF3	chr3:156242363-156242703	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000272990	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11710604	1.00[ASN][1000 genomes]
rs11714697	0.80[AFR][1000 genomes]
rs11718384	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13065924	0.97[ASN][1000 genomes]
rs13088140	0.92[ASN][1000 genomes]
rs1607462	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35201541	0.95[ASN][1000 genomes]
rs35842413	0.95[ASN][1000 genomes]
rs58308618	0.97[ASN][1000 genomes]
rs58814370	0.97[ASN][1000 genomes]
rs61155568	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62285080	0.97[ASN][1000 genomes]
rs6441074	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441075	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441076	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619602	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv829764	chr3:156174824-156347774	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
3	nsv877683	chr3:156180366-156272351	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62285074	KCNAB1	Cis_1M	lymphoblastoid	RTeQTL
rs62285074	SSR3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156227600-156246000	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:156230200-156251000	Weak transcription	Left Ventricle	heart
3	chr3:156232200-156249200	Weak transcription	Gastric	stomach
4	chr3:156233400-156246600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:156234400-156244400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr3:156234400-156248600	Weak transcription	Brain Anterior Caudate	brain
7	chr3:156234400-156251200	Weak transcription	Ovary	ovary
8	chr3:156235200-156243800	Weak transcription	Adipose Nuclei	Adipose
9	chr3:156236000-156250200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:156236200-156247600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr3:156236800-156251000	Weak transcription	Pancreas	Pancrea
12	chr3:156236800-156251200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:156237200-156243800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:156237200-156250600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:156238200-156251400	Weak transcription	A549	lung
16	chr3:156240400-156260200	Weak transcription	Esophagus	oesophagus
17	chr3:156240600-156251800	Weak transcription	Fetal Muscle Leg	muscle
18	chr3:156240800-156245600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:156240800-156246200	Weak transcription	Brain Substantia Nigra	brain
20	chr3:156240800-156248000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr3:156241400-156248200	Weak transcription	Brain Angular Gyrus	brain
22	chr3:156241600-156243400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr3:156241600-156250800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:156241600-156255800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr3:156241800-156243200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr3:156241800-156244400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:156241800-156251000	Weak transcription	HSMMtube	muscle
28	chr3:156242000-156243200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr3:156242000-156243200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:156242000-156243200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr3:156242000-156243200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr3:156242000-156243200	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr3:156242000-156243600	Weak transcription	Liver	Liver
34	chr3:156242000-156253000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:156242200-156243200	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:156242200-156243200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr3:156242200-156243200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr3:156242200-156243200	Enhancers	GM12878-XiMat	blood
39	chr3:156242200-156243400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:156242200-156251200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:156242400-156243200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:156242400-156243400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr3:156242400-156243600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:156242600-156242800	Bivalent Enhancer	Fetal Thymus	thymus
45	chr3:156242600-156243000	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr3:156242600-156243000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr3:156242600-156243000	Enhancers	Dnd41	blood
48	chr3:156242600-156243200	Enhancers	Primary hematopoietic stem cells	blood
49	chr3:156242600-156243200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr3:156242600-156243200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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