Variant report

Variant	rs11988213
Chromosome Location	chr8:67582220-67582221
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PRDM1	chr8:67582215-67582370	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:67578381..67581765-chr8:67581776..67586118,6	MCF-7	breast:
2	chr8:67581921..67584639-chr8:67590488..67593453,2	K562	blood:
3	chr8:67472882..67474653-chr8:67581593..67583567,2	K562	blood:
4	chr8:67581498..67586014-chr8:67623952..67627332,5	MCF-7	breast:
5	chr8:67579804..67582751-chr8:67973278..67976626,5	K562	blood:
6	chr8:67582095..67584225-chr8:67624520..67626340,2	MCF-7	breast:
7	chr8:67576102..67584643-chr8:67586059..67596736,15	K562	blood:
8	chr8:67581181..67583543-chr8:67604665..67607140,2	K562	blood:
9	chr8:67578996..67582751-chr8:67973027..67976256,4	K562	blood:
10	chr8:67574352..67576539-chr8:67582094..67584392,3	MCF-7	breast:

No data

Variant related genes	Relation type
VCPIP1	TF binding region
ENSG00000104205	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000213865	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs10283103	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987253	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987254	1.00[EUR][1000 genomes]
rs11987271	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990322	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11994827	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995031	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995253	0.81[EUR][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.85[EUR][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997554	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs12114868	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16932996	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933032	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap]
rs16933080	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs28432871	0.85[EUR][1000 genomes]
rs28572179	0.85[EUR][1000 genomes]
rs28589429	0.85[EUR][1000 genomes]
rs34301114	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078037	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs56682762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56742359	0.85[EUR][1000 genomes]
rs56810217	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56911449	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57125106	0.96[EUR][1000 genomes]
rs57351080	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58454063	0.85[EUR][1000 genomes]
rs58806068	0.85[EUR][1000 genomes]
rs59058682	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59410806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59643912	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60165103	0.81[EUR][1000 genomes]
rs60655524	0.80[EUR][1000 genomes]
rs60784079	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61469007	0.85[EUR][1000 genomes]
rs61589642	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6982407	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6985273	1.00[CEU][hapmap]
rs6986439	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.85[EUR][1000 genomes]
rs6991992	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998718	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.85[EUR][1000 genomes]
rs73248122	0.85[EUR][1000 genomes]
rs73248134	0.85[EUR][1000 genomes]
rs73248138	0.85[EUR][1000 genomes]
rs73250233	1.00[EUR][1000 genomes]
rs73250238	1.00[EUR][1000 genomes]
rs73250241	1.00[EUR][1000 genomes]
rs73250244	1.00[EUR][1000 genomes]
rs73250249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250262	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251887	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253909	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253964	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73253968	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261704	0.85[EUR][1000 genomes]
rs73261763	0.85[EUR][1000 genomes]
rs73261767	0.85[EUR][1000 genomes]
rs7820420	1.00[CHB][hapmap]
rs7828492	0.85[EUR][1000 genomes]
rs7830436	0.85[EUR][1000 genomes]
rs7840192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844944	0.85[EUR][1000 genomes]
rs957655	1.00[CHB][hapmap]
rs979679	1.00[CEU][hapmap]

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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67580200-67601800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67580400-67584200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:67580400-67584800	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr8:67580400-67605000	Weak transcription	Stomach Mucosa	stomach
5	chr8:67580600-67582600	Enhancers	Primary hematopoietic stem cells	blood
6	chr8:67580600-67582600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr8:67580600-67583000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:67580600-67583000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr8:67580600-67583200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:67580600-67583200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr8:67580600-67583800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr8:67580600-67624400	Weak transcription	Aorta	Aorta
13	chr8:67580600-67624400	Weak transcription	Ovary	ovary
14	chr8:67580800-67582400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:67580800-67582600	Enhancers	Primary T cells from cord blood	blood
16	chr8:67580800-67582600	Weak transcription	Brain Angular Gyrus	brain
17	chr8:67580800-67582600	Enhancers	Brain Germinal Matrix	brain
18	chr8:67580800-67582800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:67580800-67582800	Enhancers	Brain Hippocampus Middle	brain
20	chr8:67580800-67583400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:67580800-67583400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:67580800-67583600	Enhancers	Liver	Liver
23	chr8:67580800-67584000	Weak transcription	Fetal Intestine Small	intestine
24	chr8:67580800-67584000	Weak transcription	Psoas Muscle	Psoas
25	chr8:67580800-67589200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:67580800-67589200	Weak transcription	Placenta	Placenta
27	chr8:67580800-67589400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:67580800-67589600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:67580800-67589800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:67580800-67591200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:67580800-67594200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:67580800-67594800	Weak transcription	Pancreas	Pancrea
33	chr8:67580800-67602200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr8:67580800-67603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:67580800-67604000	Weak transcription	Gastric	stomach
36	chr8:67580800-67609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:67580800-67609200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr8:67580800-67623600	Weak transcription	Colonic Mucosa	Colon
39	chr8:67581000-67588800	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:67581000-67589200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:67581000-67624600	Weak transcription	Spleen	Spleen
42	chr8:67581200-67583000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:67581200-67583000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr8:67581200-67583200	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr8:67581200-67584200	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr8:67581200-67585000	Enhancers	Adipose Nuclei	Adipose
47	chr8:67581200-67585000	Weak transcription	Fetal Stomach	stomach
48	chr8:67581200-67588200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:67581200-67588600	Weak transcription	Fetal Brain Female	brain
50	chr8:67581200-67588600	Weak transcription	Rectal Mucosa Donor 31	rectum

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