Variant report

Variant	rs2032470
Chromosome Location	chr4:2873835-2873836
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:2873813-2873898	GM19239	blood:	n/a	n/a
2	CTCF	chr4:2873720-2873956	GM12878	blood:	n/a	n/a
3	CTCF	chr4:2873813-2873888	Spleen_OC	spleen:	n/a	n/a
4	CTCF	chr4:2873818-2873892	GM12892	blood:	n/a	n/a
5	EP300	chr4:2873681-2873962	K562	blood:	n/a	n/a
6	JUND	chr4:2873749-2873901	K562	blood:	n/a	n/a
7	CTCF	chr4:2873691-2873898	K562	blood:	n/a	n/a
8	PBX3	chr4:2873735-2873918	GM12878	blood:	n/a	n/a
9	CTCF	chr4:2873799-2873836	HepG2	liver:	n/a	n/a
10	TBL1XR1	chr4:2873707-2873934	K562	blood:	n/a	n/a
11	MYC	chr4:2873271-2873990	NB4	blood:	n/a	n/a
12	POLR2A	chr4:2873798-2873873	HUVEC	blood vessel:	n/a	n/a
13	ELF1	chr4:2873652-2873930	K562	blood:	n/a	chr4:2873813-2873826
14	RCOR1	chr4:2873698-2873976	K562	blood:	n/a	n/a
15	MAX	chr4:2873251-2873977	NB4	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2873606..2876373-chr4:2925507..2927684,2	MCF-7	breast:
2	chr4:2872526..2874787-chr4:2876433..2878036,2	K562	blood:
3	chr4:2873287..2875371-chr4:2875676..2877933,2	K562	blood:
4	chr4:2846265..2848875-chr4:2873594..2875378,2	K562	blood:
5	chr4:2867163..2870465-chr4:2873616..2875440,4	K562	blood:

No data

Variant related genes	Relation type
ADD1	TF binding region
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10026792	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1014947	0.94[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1014948	0.81[EUR][1000 genomes]
rs12623	0.80[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1263412	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12641947	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12643323	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12647647	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12647713	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12649553	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16843589	0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16843603	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs17833172	0.82[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17833250	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17833981	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17834203	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1877723	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2096760	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3021131	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35780153	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55927173	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58115360	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59150074	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs624833	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6600769	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6819310	0.82[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6824567	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7436306	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7655104	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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 miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv521858	chr4:2846799-2881256	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv524060	chr4:2850142-2881256	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2032470	GRK4	cis	Artery Aorta	GTEx
rs2032470	GRK4	cis	Skin Sun Exposed Lower leg	GTEx
rs2032470	GRK4	cis	Artery Tibial	GTEx
rs2032470	GRK4	Cis_1M	lymphoblastoid	RTeQTL
rs2032470	GRK4	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2857000-2877000	Weak transcription	Dnd41	blood
2	chr4:2857400-2877600	Weak transcription	HMEC	breast
3	chr4:2864600-2877400	Weak transcription	NHEK	skin
4	chr4:2870000-2877400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:2870000-2877600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:2870200-2877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:2870200-2914000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:2870400-2875000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr4:2870600-2874000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:2870600-2886000	Weak transcription	Fetal Brain Male	brain
11	chr4:2870800-2877800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:2870800-2878800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:2871000-2875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:2871000-2877600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:2871000-2885800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:2871200-2874200	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:2871200-2874200	Weak transcription	Lung	lung
18	chr4:2871200-2874400	Weak transcription	Esophagus	oesophagus
19	chr4:2871200-2875400	Weak transcription	NHLF	lung
20	chr4:2871200-2877000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:2871200-2877000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:2871200-2877400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:2871200-2877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:2871200-2877400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:2871200-2877400	Weak transcription	Placenta	Placenta
26	chr4:2871200-2877400	Weak transcription	Thymus	Thymus
27	chr4:2871200-2881600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:2871200-2886000	Weak transcription	Aorta	Aorta
29	chr4:2871200-2896000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:2871200-2900600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr4:2871400-2874200	Weak transcription	Spleen	Spleen
32	chr4:2871400-2874400	Weak transcription	Colonic Mucosa	Colon
33	chr4:2871400-2877400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:2871400-2877400	Weak transcription	Fetal Kidney	kidney
35	chr4:2871400-2879400	Weak transcription	Gastric	stomach
36	chr4:2871600-2874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr4:2871600-2874400	Enhancers	Brain Anterior Caudate	brain
38	chr4:2871600-2874800	Weak transcription	Pancreas	Pancrea
39	chr4:2871600-2874800	Weak transcription	Stomach Mucosa	stomach
40	chr4:2871600-2877200	Weak transcription	Brain Germinal Matrix	brain
41	chr4:2871600-2877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:2871600-2877600	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:2871600-2880800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:2871800-2874000	Enhancers	Brain Substantia Nigra	brain
45	chr4:2871800-2874200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr4:2871800-2875200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:2871800-2876800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:2871800-2876800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr4:2871800-2877400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr4:2871800-2877800	Weak transcription	Fetal Brain Female	brain

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