Variant report

Variant	rs1125107
Chromosome Location	chr6:149842694-149842695
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	E2F4	chr6:149842675-149842875	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr6:149842681-149842996	IMR90	lung:	n/a	chr6:149842833-149842844
3	CEBPB	chr6:149842670-149842995	HepG2	liver:	n/a	chr6:149842833-149842844

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149352912..149354460-chr6:149841188..149844110,2	MCF-7	breast:
2	chr6:149840862..149843868-chr6:149845799..149849456,4	K562	blood:

Variant related genes	Relation type
PPIL4	TF binding region
ENSG00000236591	Chromatin interaction

Extended variants
information (count: 116 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs10485097	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782310	0.87[CHB][hapmap]
rs10782312	0.87[CHB][hapmap]
rs11155662	0.87[CHB][hapmap]
rs11155670	0.87[CHB][hapmap]
rs11155671	0.87[CHB][hapmap]
rs11155674	0.87[CHB][hapmap]
rs12174349	0.87[CHB][hapmap]
rs12234128	0.87[CHB][hapmap]
rs12524946	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529698	0.87[CHB][hapmap]
rs12663698	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12665533	0.87[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474640	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17732745	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1934534	0.81[CHB][hapmap]
rs2064520	0.87[CHB][hapmap]
rs2064521	0.84[CHB][hapmap]
rs2105200	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2185352	0.87[CHB][hapmap]
rs2297930	0.87[CHB][hapmap]
rs2341550	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2341551	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2341768	0.81[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28580659	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2880075	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34870994	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3734295	0.87[CHB][hapmap]
rs3777949	0.87[CHB][hapmap]
rs3798761	0.87[CHB][hapmap]
rs3813675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3924871	0.87[CHB][hapmap]
rs4354168	0.86[CHB][hapmap]
rs4421206	0.85[CHB][hapmap]
rs4455682	0.86[CHB][hapmap]
rs4869797	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4870509	0.87[CHB][hapmap]
rs4870529	0.87[CHB][hapmap]
rs4897128	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4897130	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4897131	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4897132	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4897133	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4897137	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897138	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4897139	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60404985	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62439778	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62442787	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62442788	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62442789	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62442790	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62442792	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62442793	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62442795	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62442798	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6570968	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6911016	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6913486	0.87[CHB][hapmap]
rs6929614	0.97[ASN][1000 genomes]
rs7450246	0.87[CHB][hapmap]
rs761617	0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7740278	0.87[CHB][hapmap]
rs7753560	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7767622	0.87[CHB][hapmap]
rs7774559	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7774597	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs909792	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9285521	0.87[CHB][hapmap]
rs9322184	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9322185	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322188	0.86[CHB][hapmap]
rs9322198	0.87[CHB][hapmap]
rs9322200	0.86[CHB][hapmap]
rs9322209	0.87[CHB][hapmap]
rs9322214	0.87[CHB][hapmap]
rs9373594	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9373595	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9373596	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9377220	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377221	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377223	0.93[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9377224	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9377230	0.87[CHB][hapmap]
rs9390684	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390687	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390688	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9390689	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9393175	0.86[CHB][hapmap]
rs9399689	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399690	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9404042	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9404043	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9404044	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9404048	0.87[CHB][hapmap]
rs9406344	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9498368	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9688452	0.84[CHB][hapmap]
rs9689084	0.84[CHB][hapmap]
rs9689569	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9689723	0.87[CHB][hapmap]
rs9718079	0.87[CHB][hapmap]
rs9766037	0.81[CHB][hapmap]
rs9766886	0.81[CHB][hapmap]
rs9767105	0.87[CHB][hapmap]
rs9767123	0.87[CHB][hapmap]
rs9767309	0.87[CHB][hapmap]
rs9767555	0.87[CHB][hapmap]
rs9767713	0.87[CHB][hapmap]
rs9800580	0.87[CHB][hapmap]
rs9800614	0.87[CHB][hapmap]
rs9800648	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9800686	0.87[CHB][hapmap]
rs9800736	0.87[CHB][hapmap]
rs9968911	0.87[CHB][hapmap]

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	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1125107	RP11-350J20.5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149806400-149844800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:149807000-149849000	Weak transcription	Gastric	stomach
3	chr6:149810800-149851600	Weak transcription	Esophagus	oesophagus
4	chr6:149811200-149860600	Weak transcription	Aorta	Aorta
5	chr6:149815600-149845000	Weak transcription	Small Intestine	intestine
6	chr6:149818400-149843800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:149818800-149845000	Weak transcription	A549	lung
8	chr6:149820400-149845200	Weak transcription	Hela-S3	cervix
9	chr6:149820400-149849000	Weak transcription	Psoas Muscle	Psoas
10	chr6:149820400-149850200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:149820600-149847800	Weak transcription	Brain Substantia Nigra	brain
12	chr6:149820600-149851400	Weak transcription	NHLF	lung
13	chr6:149820600-149865200	Weak transcription	Stomach Mucosa	stomach
14	chr6:149820800-149848200	Weak transcription	Pancreas	Pancrea
15	chr6:149822600-149845000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:149823800-149851800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:149824200-149846000	Weak transcription	Fetal Brain Male	brain
18	chr6:149824400-149862200	Strong transcription	Liver	Liver
19	chr6:149824600-149864200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:149825000-149851800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr6:149825200-149850200	Weak transcription	Right Ventricle	heart
22	chr6:149826000-149847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr6:149829600-149851600	Weak transcription	Colonic Mucosa	Colon
24	chr6:149830600-149865600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr6:149831400-149851800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:149832000-149865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:149832200-149862200	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr6:149832800-149844800	Weak transcription	Ovary	ovary
29	chr6:149832800-149850200	Weak transcription	Lung	lung
30	chr6:149833400-149844000	Weak transcription	HSMMtube	muscle
31	chr6:149833400-149844400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr6:149833400-149845000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:149833600-149844600	Weak transcription	Brain Angular Gyrus	brain
34	chr6:149835000-149862000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr6:149835000-149862200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:149835000-149862200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr6:149835000-149862200	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr6:149835000-149863600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:149835200-149862400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr6:149835400-149850400	Weak transcription	Spleen	Spleen
41	chr6:149835600-149843800	Weak transcription	Fetal Stomach	stomach
42	chr6:149835600-149844200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:149835800-149843800	Weak transcription	Fetal Intestine Small	intestine
44	chr6:149835800-149849800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr6:149836000-149862200	Strong transcription	Fetal Thymus	thymus
46	chr6:149836200-149862400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr6:149836400-149852200	Strong transcription	HSMM	muscle
48	chr6:149836400-149862800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:149837200-149862200	Strong transcription	Placenta	Placenta
50	chr6:149837200-149862200	Strong transcription	Osteobl	bone

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