Variant report

Variant	rs6703465
Chromosome Location	chr1:151939567-151939568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151939559..151942218-chr1:152018878..152020533,2	MCF-7	breast:
2	chr1:151860776..151864550-chr1:151939132..151941860,5	MCF-7	breast:
3	chr1:151937625..151940407-chr1:151960051..151962208,2	K562	blood:
4	chr1:151918309..151920987-chr1:151938809..151942058,3	MCF-7	breast:
5	chr1:151939365..151942240-chr1:151972408..151973945,2	K562	blood:
6	chr1:151939119..151942240-chr1:151972408..151975216,4	K562	blood:
7	chr1:151920531..151923410-chr1:151938678..151941619,2	K562	blood:

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000223810	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1038747	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs10494270	0.90[CHB][hapmap];0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11204915	0.81[CHB][hapmap]
rs11204919	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204920	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11204922	0.82[CHB][hapmap]
rs11582739	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12083193	0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12095483	0.90[ASN][1000 genomes]
rs12116923	0.82[CHB][hapmap]
rs16833668	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16833669	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16833670	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16833728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16833743	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[YRI][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1844543	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1979637	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2279501	0.86[CHB][hapmap]
rs2279502	0.91[CHB][hapmap]
rs2337685	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2337686	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2338019	0.86[CHB][hapmap]
rs2338206	0.85[ASN][1000 genomes]
rs28415528	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2932579	0.86[CHB][hapmap]
rs2932580	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932590	0.95[CHB][hapmap]
rs2999526	0.95[CHB][hapmap]
rs2999528	0.95[CHB][hapmap]
rs2999531	0.91[CHB][hapmap]
rs2999534	0.81[CHB][hapmap]
rs2999542	0.81[CHB][hapmap]
rs2999544	0.81[CHB][hapmap]
rs3007685	0.81[CHB][hapmap]
rs3007708	0.91[CHB][hapmap]
rs3007711	0.81[CHB][hapmap]
rs34251437	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791153	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[YRI][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4845719	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56000812	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56078223	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56170235	0.85[ASN][1000 genomes]
rs56313205	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs57674198	0.85[ASN][1000 genomes]
rs57785325	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58087484	0.85[ASN][1000 genomes]
rs61814883	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61817695	0.85[ASN][1000 genomes]
rs61817697	0.83[ASN][1000 genomes]
rs61817719	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61817720	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61817722	0.96[ASN][1000 genomes]
rs61817723	0.94[ASN][1000 genomes]
rs61817724	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61817725	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6587632	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6587633	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6587634	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6587635	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587637	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587640	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6657658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6659662	0.83[ASN][1000 genomes]
rs6662602	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6662611	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6662728	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6663064	0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6672064	0.84[ASN][1000 genomes]
rs6675930	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678672	0.95[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6682605	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684114	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6684312	0.81[AMR][1000 genomes]
rs6686874	0.95[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6690449	0.81[AMR][1000 genomes]
rs6691212	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6693388	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6693396	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6693901	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6695324	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6701374	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6703448	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72694840	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7535002	0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7538652	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7541099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554832	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554859	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs902313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971887	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9943221	0.91[CHB][hapmap];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9943251	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers 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	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
6	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6703465	S100A10	cis	multi-tissue	Pritchard
rs6703465	NBPF18P	cis	Nerve Tibial	GTEx
rs6703465	THEM4	cis	multi-tissue	Pritchard
rs6703465	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs6703465	S100A10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151930800-151940800	Weak transcription	NHDF-Ad	bronchial
2	chr1:151933600-151945000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:151934000-151940600	Weak transcription	Gastric	stomach
4	chr1:151934200-151940600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:151934200-151942600	Weak transcription	HSMM	muscle
6	chr1:151934400-151940200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:151934600-151940600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:151934600-151953400	Weak transcription	Psoas Muscle	Psoas
9	chr1:151934800-151939600	Weak transcription	Fetal Intestine Small	intestine
10	chr1:151934800-151940200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:151935200-151940400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:151936000-151945000	Weak transcription	HSMMtube	muscle
13	chr1:151937200-151940200	Weak transcription	Adipose Nuclei	Adipose
14	chr1:151937200-151940200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:151937200-151940400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr1:151937200-151940400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:151937200-151940600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:151937200-151940600	Weak transcription	Left Ventricle	heart
19	chr1:151937200-151940600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr1:151937200-151940800	Weak transcription	Spleen	Spleen
21	chr1:151937200-151945000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr1:151937400-151939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:151937400-151940200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:151937400-151940200	Weak transcription	Stomach Mucosa	stomach
25	chr1:151937400-151940400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:151937400-151940600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:151937400-151940600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:151937400-151940600	Weak transcription	Lung	lung
29	chr1:151938400-151942600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:151938400-151945000	Enhancers	HMEC	breast
31	chr1:151938400-151946200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:151938600-151940200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr1:151938800-151942200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr1:151938800-151942400	Enhancers	HUVEC	blood vessel
35	chr1:151939200-151940200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:151939200-151940400	Weak transcription	Hela-S3	cervix
37	chr1:151939200-151940800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:151939400-151940400	Weak transcription	NHEK	skin

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