Variant report

Variant	rs7200430
Chromosome Location	chr16:70518934-70518935
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr16:70518911-70518980	K562	blood:	n/a	n/a
2	ZNF143	chr16:70518898-70518996	K562	blood:	n/a	n/a
3	RCOR1	chr16:70518842-70519051	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70505499..70507933-chr16:70517566..70519175,2	MCF-7	breast:
2	chr16:70510922..70516361-chr16:70517334..70521909,5	K562	blood:
3	chr16:70441331..70443515-chr16:70517250..70519434,2	K562	blood:
4	chr16:70513484..70515449-chr16:70517366..70519641,2	K562	blood:
5	chr16:70503488..70506383-chr16:70517357..70519879,2	MCF-7	breast:
6	chr16:70518786..70520618-chr16:70554933..70557035,2	K562	blood:
7	chr16:70509985..70511741-chr16:70516736..70518962,2	MCF-7	breast:

No data

Variant related genes	Relation type
COG4	TF binding region
ENSG00000157353	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10852465	0.80[ASN][1000 genomes]
rs11075767	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075768	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11075769	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11075770	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11640374	0.96[CEU][hapmap]
rs11641683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11643344	0.88[ASN][1000 genomes]
rs11643373	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap]
rs11645214	0.96[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs11645287	0.96[CEU][hapmap]
rs11645437	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11645585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648402	1.00[CEU][hapmap];0.84[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11649624	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11865527	0.88[ASN][1000 genomes]
rs11866400	0.96[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12447090	0.84[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap]
rs12597401	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12909	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12925729	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12933634	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2168606	1.00[CEU][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2288491	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303791	0.88[ASW][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes]
rs2303792	1.00[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2303793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33910368	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34087264	0.89[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap]
rs34567847	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34890962	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3762171	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3859068	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs4277334	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4284632	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4324119	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4432264	0.82[AMR][1000 genomes]
rs4436771	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4513092	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4592653	0.96[CEU][hapmap];0.80[GIH][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs4985533	0.88[ASW][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs4985534	0.88[ASW][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs58963621	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6499317	0.85[AMR][1000 genomes]
rs6499320	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6499321	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71401814	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7189474	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7190039	1.00[MEX][hapmap];0.80[AMR][1000 genomes]
rs7192268	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs7194521	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7195030	0.81[ASN][1000 genomes]
rs7197262	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7197840	0.81[EUR][1000 genomes]
rs7198317	0.96[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.80[EUR][1000 genomes]
rs7199859	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7201750	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7204583	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs722579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs744672	0.85[ASN][1000 genomes]
rs7919	0.89[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs8045651	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8046881	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8049641	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8049786	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8051506	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8052031	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8052125	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053436	0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs8057610	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8058224	0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap]
rs8062178	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs8062183	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap]
rs8063990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8064013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs936994	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9635522	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9929904	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934440	0.95[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap]
rs9936225	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	esv2830027	chr16:70473934-70558039	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs7200430	CLEC18A	cis	Whole Blood	GTEx
rs7200430	CLEC18C	cis	lung	GTEx
rs7200430	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs7200430	LOC283970	cis	multi-tissue	Pritchard
rs7200430	CLEC18A	cis	Artery Aorta	GTEx
rs7200430	RP11-296I10.6	cis	Thyroid	GTEx
rs7200430	CLEC18C	cis	Whole Blood	GTEx
rs7200430	PDXDC2P	cis	Skin Sun Exposed Lower leg	GTEx
rs7200430	RP11-419C5.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70489400-70556400	Weak transcription	Stomach Mucosa	stomach
2	chr16:70495000-70519000	Strong transcription	Primary T cells from cord blood	blood
3	chr16:70501200-70535800	Strong transcription	Fetal Intestine Small	intestine
4	chr16:70501400-70535200	Strong transcription	Fetal Intestine Large	intestine
5	chr16:70501400-70536400	Strong transcription	Fetal Stomach	stomach
6	chr16:70503800-70522200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr16:70504200-70524800	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr16:70504200-70532000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:70504400-70535200	Strong transcription	Liver	Liver
10	chr16:70506200-70524000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr16:70506400-70535200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr16:70506600-70522800	Weak transcription	Fetal Brain Male	brain
13	chr16:70506600-70535400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr16:70507000-70520400	Strong transcription	Brain Anterior Caudate	brain
15	chr16:70510600-70519000	Strong transcription	Primary B cells from peripheral blood	blood
16	chr16:70511000-70527400	Weak transcription	Psoas Muscle	Psoas
17	chr16:70511400-70526200	Strong transcription	Thymus	Thymus
18	chr16:70511600-70524200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr16:70511800-70524800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:70511800-70535600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr16:70512000-70519000	Strong transcription	Brain Germinal Matrix	brain
22	chr16:70512000-70524600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:70512000-70535400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr16:70512200-70520600	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr16:70512200-70521200	Strong transcription	Fetal Thymus	thymus
26	chr16:70512800-70524200	Strong transcription	Fetal Muscle Leg	muscle
27	chr16:70512800-70533600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr16:70512800-70556400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr16:70513000-70519000	Strong transcription	Brain Hippocampus Middle	brain
30	chr16:70513000-70528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:70513000-70528600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:70513200-70522000	Strong transcription	Stomach Smooth Muscle	stomach
33	chr16:70513600-70522600	Strong transcription	Adipose Nuclei	Adipose
34	chr16:70513600-70527600	Weak transcription	Right Atrium	heart
35	chr16:70513800-70519600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr16:70513800-70520800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr16:70513800-70532200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr16:70514000-70520600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr16:70514000-70523400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr16:70514000-70524400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:70514200-70520400	Strong transcription	Lung	lung
42	chr16:70514400-70524800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr16:70514400-70527800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr16:70514600-70519000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr16:70514600-70523400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr16:70514800-70524200	Weak transcription	Fetal Heart	heart
47	chr16:70515800-70524000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr16:70516000-70519200	Strong transcription	Colon Smooth Muscle	Colon
49	chr16:70516000-70530200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr16:70516200-70527200	Weak transcription	Small Intestine	intestine

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