Variant report

Variant	rs4289745
Chromosome Location	chr7:128300843-128300844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr7:128300673-128301018	HepG2	liver:	n/a	chr7:128300842-128300860 chr7:128300841-128300855
2	MAFK	chr7:128300700-128301019	HepG2	liver:	n/a	chr7:128300844-128300854 chr7:128300848-128300859 chr7:128300845-128300854 chr7:128300843-128300858 chr7:128300848-128300859 chr7:128300842-128300851 chr7:128300840-128300856 chr7:128300838-128300858 chr7:128300846-128300860 chr7:128300841-128300855 chr7:128300843-128300859
3	MAFK	chr7:128300662-128301034	IMR90	lung:	n/a	chr7:128300844-128300854 chr7:128300848-128300859 chr7:128300845-128300854 chr7:128300843-128300858 chr7:128300848-128300859 chr7:128300842-128300851 chr7:128300840-128300856 chr7:128300838-128300858 chr7:128300846-128300860 chr7:128300841-128300855 chr7:128300843-128300859
4	MAFK	chr7:128300677-128301016	K562	blood:	n/a	chr7:128300844-128300854 chr7:128300848-128300859 chr7:128300845-128300854 chr7:128300843-128300858 chr7:128300848-128300859 chr7:128300842-128300851 chr7:128300840-128300856 chr7:128300838-128300858 chr7:128300846-128300860 chr7:128300841-128300855 chr7:128300843-128300859
5	MAFK	chr7:128300672-128301025	Hela-S3	cervix:	n/a	chr7:128300844-128300854 chr7:128300848-128300859 chr7:128300845-128300854 chr7:128300843-128300858 chr7:128300848-128300859 chr7:128300842-128300851 chr7:128300840-128300856 chr7:128300838-128300858 chr7:128300846-128300860 chr7:128300841-128300855 chr7:128300843-128300859
6	POLR2A	chr7:128300716-128301008	U87	brain:	n/a	n/a
7	MAFK	chr7:128300662-128301036	HepG2	liver:	n/a	chr7:128300844-128300854 chr7:128300848-128300859 chr7:128300845-128300854 chr7:128300843-128300858 chr7:128300848-128300859 chr7:128300842-128300851 chr7:128300840-128300856 chr7:128300838-128300858 chr7:128300846-128300860 chr7:128300841-128300855 chr7:128300843-128300859
8	MAFF	chr7:128300702-128301008	K562	blood:	n/a	chr7:128300842-128300860 chr7:128300841-128300855
9	MAFK	chr7:128300715-128300987	H1-hESC	embryonic stem cell:	n/a	chr7:128300844-128300854 chr7:128300848-128300859 chr7:128300845-128300854 chr7:128300843-128300858 chr7:128300848-128300859 chr7:128300842-128300851 chr7:128300840-128300856 chr7:128300838-128300858 chr7:128300846-128300860 chr7:128300841-128300855 chr7:128300843-128300859
10	POLR2A	chr7:128300716-128300977	U87	brain:	n/a	n/a
11	POLR2A	chr7:128300814-128300915	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128299231..128302133-chr7:128312144..128313833,2	K562	blood:
2	chr7:128115173..128117389-chr7:128298817..128301721,2	K562	blood:
3	chr7:128298702..128300846-chr7:128378149..128381069,2	K562	blood:

Variant related genes	Relation type
CICP14	TF binding region
ENSG00000205085	Chromatin interaction
ENSG00000165055	Chromatin interaction
ENSG00000128595	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10085435	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10224862	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10227608	0.84[EUR][1000 genomes]
rs10233059	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10241185	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10242806	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10250369	0.83[EUR][1000 genomes]
rs10253131	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10259359	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10269844	0.82[EUR][1000 genomes]
rs10270431	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10270985	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10274878	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10276810	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10954205	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11761312	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11766319	0.80[EUR][1000 genomes]
rs11768485	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771884	0.80[EUR][1000 genomes]
rs12333625	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530672	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12535238	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12536288	1.00[ASN][1000 genomes]
rs12537208	0.83[EUR][1000 genomes]
rs12706858	0.89[ASN][1000 genomes]
rs13224613	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13233377	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13235219	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13237593	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13246302	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28496126	0.84[EUR][1000 genomes]
rs28521260	0.84[EUR][1000 genomes]
rs28521711	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339070	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs339071	0.89[ASN][1000 genomes]
rs339074	0.89[ASN][1000 genomes]
rs339079	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs339093	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34120723	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34490491	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34751214	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34757247	0.84[ASN][1000 genomes]
rs34887739	0.86[AMR][1000 genomes]
rs34942906	0.89[ASN][1000 genomes]
rs34960471	0.90[ASN][1000 genomes]
rs35247963	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35603038	0.89[ASN][1000 genomes]
rs35825132	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35871589	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3816421	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55953818	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60029447	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6467181	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes]
rs6467184	0.84[EUR][1000 genomes]
rs6467201	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6467205	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6943737	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6946179	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6958343	0.82[EUR][1000 genomes]
rs6960296	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6961754	0.83[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6963982	0.82[EUR][1000 genomes]
rs6967393	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6969343	0.82[EUR][1000 genomes]
rs6971819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6972787	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6976879	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6977126	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71546785	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71546786	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs71546790	0.89[ASN][1000 genomes]
rs71548762	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7776915	0.88[EUR][1000 genomes]
rs7777625	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778169	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7778731	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7786772	0.82[EUR][1000 genomes]
rs7787764	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7790478	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7794447	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7798172	0.84[EUR][1000 genomes]
rs7804472	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7810047	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7811083	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9690225	0.82[EUR][1000 genomes]
rs9690934	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9692416	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9768808	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9769753	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs4289745	CICP14	cis	Esophagus Muscularis	GTEx
rs4289745	CICP14	cis	lung	GTEx
rs4289745	CICP14	cis	Skin Sun Exposed Lower leg	GTEx
rs4289745	RP11-274B21.10	cis	Esophagus Mucosa	GTEx
rs4289745	RP11-274B21.10	cis	Esophagus Muscularis	GTEx
rs4289745	CICP14	cis	Nerve Tibial	GTEx
rs4289745	RP11-274B21.10	cis	Skin Sun Exposed Lower leg	GTEx
rs4289745	RP11-274B21.10	cis	Thyroid	GTEx
rs4289745	CICP14	cis	Muscle Skeletal	GTEx
rs4289745	RP11-274B21.10	cis	Nerve Tibial	GTEx
rs4289745	CICP14	cis	Thyroid	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128249600-128308400	Weak transcription	HSMM	muscle
2	chr7:128249600-128312200	Weak transcription	Psoas Muscle	Psoas
3	chr7:128249600-128319600	Weak transcription	NHLF	lung
4	chr7:128279800-128301400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:128282400-128301400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:128282400-128312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:128284000-128304800	Weak transcription	Primary T cells from cord blood	blood
8	chr7:128284200-128301400	Weak transcription	Fetal Lung	lung
9	chr7:128284200-128313200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:128284400-128313200	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:128287400-128301400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:128289000-128301400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:128293600-128301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:128293600-128301600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr7:128293600-128302000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:128293600-128302200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:128293600-128312200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:128294000-128301000	Weak transcription	Esophagus	oesophagus
19	chr7:128294000-128313200	Weak transcription	Brain Germinal Matrix	brain
20	chr7:128294400-128302200	Weak transcription	Aorta	Aorta
21	chr7:128294600-128301400	Weak transcription	Spleen	Spleen
22	chr7:128294600-128301800	Weak transcription	Fetal Brain Female	brain
23	chr7:128294800-128301000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:128294800-128301400	Weak transcription	Fetal Muscle Leg	muscle
25	chr7:128294800-128302200	Weak transcription	Gastric	stomach
26	chr7:128294800-128328000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:128295000-128301200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:128295000-128301400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:128295000-128301400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:128295000-128301400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:128295000-128301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:128295000-128301600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:128295000-128304800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:128295000-128310400	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:128295000-128311000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:128295000-128319800	Weak transcription	Left Ventricle	heart
37	chr7:128295000-128319800	Weak transcription	Right Ventricle	heart
38	chr7:128295000-128325200	Weak transcription	Brain Hippocampus Middle	brain
39	chr7:128295200-128301000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:128295200-128301000	Weak transcription	Fetal Intestine Large	intestine
41	chr7:128295400-128325400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:128295800-128301400	Weak transcription	Fetal Stomach	stomach
43	chr7:128296200-128301000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr7:128296200-128301400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:128298600-128329200	Weak transcription	Pancreas	Pancrea
46	chr7:128299000-128301000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr7:128299200-128301400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:128299400-128301000	Weak transcription	Fetal Intestine Small	intestine
49	chr7:128300000-128301600	ZNF genes & repeats	Dnd41	blood
50	chr7:128300200-128301600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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