Variant report

Variant	rs4236824
Chromosome Location	chr8:91684776-91684777
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91653197..91659696-chr8:91680011..91690485,28	MCF-7	breast:
2	chr8:91684347..91686776-chr8:91767957..91769690,2	MCF-7	breast:
3	chr8:91679586..91682338-chr8:91683375..91685862,2	MCF-7	breast:
4	chr8:91657193..91658920-chr8:91683633..91685696,2	K562	blood:
5	chr8:91652941..91663346-chr8:91680436..91690653,24	MCF-7	breast:
6	chr8:91650629..91653115-chr8:91682985..91684904,2	MCF-7	breast:
7	chr8:91680263..91682720-chr8:91684453..91686696,2	K562	blood:
8	chr8:91661115..91662955-chr8:91684454..91687038,2	K562	blood:
9	chr8:91682939..91685904-chr8:91705283..91708247,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10086155	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs10090406	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10091274	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808624	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808625	0.83[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[LWK][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808626	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956763	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10956764	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10956765	0.81[CHD][hapmap];0.90[MEX][hapmap]
rs10956770	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs10956776	0.82[YRI][hapmap]
rs1125502	0.93[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11777332	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12550194	0.81[CHD][hapmap];0.82[GIH][hapmap]
rs12677100	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs13265863	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs1354516	0.81[CHD][hapmap];0.81[GIH][hapmap];0.85[MEX][hapmap]
rs1394505	0.82[YRI][hapmap]
rs1394509	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs1463917	0.83[GIH][hapmap];0.82[MEX][hapmap];0.82[YRI][hapmap]
rs1463918	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.82[YRI][hapmap]
rs1463919	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs1604915	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs16905145	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1976495	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs2339228	0.90[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.87[ASN][1000 genomes]
rs2339229	0.82[ASN][1000 genomes]
rs2339230	0.89[CHD][hapmap];0.82[GIH][hapmap];0.94[JPT][hapmap];0.95[MEX][hapmap];0.82[ASN][1000 genomes]
rs34753356	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35547810	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4236825	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236826	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4236827	0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs4236828	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4301409	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4323436	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4330649	0.96[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4330650	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4332092	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4335090	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4335091	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4338064	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4376466	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4377923	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4377924	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4442097	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4520126	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4538831	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4606020	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4637779	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4642598	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734296	1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[ASN][1000 genomes]
rs4735295	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4735306	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735308	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4735309	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.90[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4735341	0.90[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs4735368	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.82[YRI][hapmap]
rs6471243	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[ASN][1000 genomes]
rs6471245	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471248	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6471249	0.81[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs6985723	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993648	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6994433	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6997009	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6998736	0.85[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7003026	0.81[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7008239	0.85[ASN][1000 genomes]
rs7009348	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017260	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7814682	0.81[CHD][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap]
rs7818125	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7821994	0.83[ASN][1000 genomes]
rs7822742	0.81[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7832679	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7835610	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.89[ASN][1000 genomes]
rs7839617	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840113	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7840203	0.83[ASN][1000 genomes]
rs885497	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4236824	SLC26A7	cis	parietal	SCAN
rs4236824	RUNX1T1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91679000-91688000	Weak transcription	Aorta	Aorta
2	chr8:91680600-91689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:91682000-91685800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:91683600-91685000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:91683600-91685400	Weak transcription	Fetal Kidney	kidney
6	chr8:91683600-91685800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr8:91683600-91686600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:91683800-91685000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:91683800-91685600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:91683800-91685600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:91683800-91685600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:91683800-91686400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:91683800-91686800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr8:91683800-91687200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:91683800-91688000	Weak transcription	Brain Angular Gyrus	brain
16	chr8:91683800-91688000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr8:91683800-91688000	Weak transcription	Brain Hippocampus Middle	brain
18	chr8:91683800-91688000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:91683800-91688000	Weak transcription	Brain Substantia Nigra	brain
20	chr8:91683800-91688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr8:91683800-91688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:91683800-91688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:91683800-91688400	Weak transcription	Right Atrium	heart
24	chr8:91683800-91688600	Weak transcription	Fetal Lung	lung
25	chr8:91683800-91691000	Weak transcription	Placenta	Placenta
26	chr8:91683800-91691600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:91684000-91685200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:91684000-91685800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:91684000-91686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:91684000-91686600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:91684000-91687200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr8:91684000-91688000	Weak transcription	Fetal Muscle Leg	muscle
33	chr8:91684000-91688000	Weak transcription	Osteobl	bone
34	chr8:91684000-91688200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr8:91684000-91688200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:91684000-91688200	Weak transcription	Brain Anterior Caudate	brain
37	chr8:91684000-91688400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:91684000-91688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:91684000-91688400	Weak transcription	Fetal Heart	heart
40	chr8:91684000-91688400	Weak transcription	Fetal Stomach	stomach
41	chr8:91684000-91688400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr8:91684000-91688400	Weak transcription	HSMMtube	muscle
43	chr8:91684000-91688400	Weak transcription	NHLF	lung
44	chr8:91684000-91688600	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:91684000-91688600	Weak transcription	HSMM	muscle
46	chr8:91684200-91685400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:91684200-91685400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr8:91684200-91686800	Weak transcription	Colon Smooth Muscle	Colon
49	chr8:91684200-91687400	Weak transcription	Rectal Smooth Muscle	rectum
50	chr8:91684200-91691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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