Variant report

Variant	rs7195030
Chromosome Location	chr16:70612790-70612791
allele	A/T
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	POLR2A	chr16:70609370-70614299	A549	lung:	n/a	n/a
2	POLR2A	chr16:70611809-70614260	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:70612756-70613058	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:70612768-70612984	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr16:70612562-70612806	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr16:70609412-70614432	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr16:70612695-70613066	GM12878	blood:	n/a	n/a
8	POLR2A	chr16:70611786-70613157	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:70559871..70561537-chr16:70612058..70614410,2	K562	blood:
2	chr16:70573143..70576086-chr16:70612689..70614684,2	MCF-7	breast:

Variant related genes	Relation type
IL34	TF binding region
ENSG00000189091	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10852465	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11075767	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075768	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11075769	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11075770	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11075772	0.84[EUR][1000 genomes]
rs11640374	0.94[EUR][1000 genomes]
rs11641683	0.81[ASN][1000 genomes]
rs11643344	0.89[ASN][1000 genomes]
rs11643373	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11643823	0.94[EUR][1000 genomes]
rs11645092	0.94[EUR][1000 genomes]
rs11645214	0.91[EUR][1000 genomes]
rs11645287	0.94[EUR][1000 genomes]
rs11645437	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11645585	0.81[ASN][1000 genomes]
rs11648402	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11649624	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11865527	0.89[ASN][1000 genomes]
rs11866400	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12597401	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12909	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12925729	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12931402	0.91[EUR][1000 genomes]
rs2168606	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2288491	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2303792	0.81[ASN][1000 genomes]
rs2303793	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs33910368	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34567847	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34890962	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3762171	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4284632	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4324119	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4436771	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4513092	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4592653	0.91[EUR][1000 genomes]
rs58963621	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499320	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6499321	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71401814	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7194521	0.81[ASN][1000 genomes]
rs7197262	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7197840	0.90[EUR][1000 genomes]
rs7198317	0.94[EUR][1000 genomes]
rs7199859	0.81[ASN][1000 genomes]
rs7200430	0.81[ASN][1000 genomes]
rs7201750	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7204583	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs722579	0.81[ASN][1000 genomes]
rs8045651	0.81[ASN][1000 genomes]
rs8046881	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8047409	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8049221	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8049277	0.81[EUR][1000 genomes]
rs8049641	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8049786	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8051506	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8052031	0.81[EUR][1000 genomes]
rs8052125	0.81[ASN][1000 genomes]
rs8053436	0.90[ASN][1000 genomes]
rs8057610	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8062178	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8063990	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8064013	0.81[ASN][1000 genomes]
rs9635522	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9929904	0.81[ASN][1000 genomes]
rs9936225	0.80[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7195030	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs7195030	RP11-419C5.2	cis	Muscle Skeletal	GTEx
rs7195030	RP11-296I10.6	cis	Artery Tibial	GTEx
rs7195030	CLEC18A	cis	Artery Aorta	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70607000-70613200	Weak transcription	Stomach Mucosa	stomach
2	chr16:70607600-70615400	Weak transcription	Fetal Heart	heart
3	chr16:70607800-70612800	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:70608000-70613400	Weak transcription	Right Ventricle	heart
5	chr16:70608000-70624600	Weak transcription	Pancreas	Pancrea
6	chr16:70608200-70613200	Weak transcription	HepG2	liver
7	chr16:70608400-70613400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr16:70608400-70613600	Weak transcription	Ovary	ovary
9	chr16:70608600-70613200	Weak transcription	Left Ventricle	heart
10	chr16:70608600-70613400	Weak transcription	Esophagus	oesophagus
11	chr16:70608600-70613800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr16:70608800-70616000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr16:70609000-70613200	Weak transcription	K562	blood
14	chr16:70609000-70613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:70609000-70613800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr16:70609000-70613800	Weak transcription	Gastric	stomach
17	chr16:70609000-70628000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:70609600-70613400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr16:70609600-70613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:70609600-70613800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr16:70609600-70614000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr16:70609800-70613200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr16:70609800-70616200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:70609800-70623800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:70610000-70623800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:70610600-70613200	Weak transcription	NHEK	skin
27	chr16:70610800-70613200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr16:70610800-70613200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:70610800-70613600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:70611200-70613200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:70611200-70613400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:70611200-70613400	Weak transcription	Colon Smooth Muscle	Colon
33	chr16:70611200-70613600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr16:70611200-70613800	Weak transcription	Aorta	Aorta
35	chr16:70611400-70612800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:70611400-70613000	Weak transcription	Brain Germinal Matrix	brain
37	chr16:70611400-70613200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:70611400-70613200	Weak transcription	Fetal Muscle Leg	muscle
39	chr16:70611400-70613200	Weak transcription	Lung	lung
40	chr16:70611400-70613200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr16:70611400-70613400	Weak transcription	Colonic Mucosa	Colon
42	chr16:70611400-70613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr16:70611400-70613400	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr16:70611400-70613600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:70611400-70616200	Weak transcription	Right Atrium	heart
46	chr16:70611600-70613200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:70611600-70613200	Weak transcription	Adipose Nuclei	Adipose
48	chr16:70611600-70613200	Weak transcription	Placenta	Placenta
49	chr16:70611600-70613200	Weak transcription	Fetal Stomach	stomach
50	chr16:70611600-70613200	Weak transcription	Spleen	Spleen

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