Variant report

Variant	rs16933013
Chromosome Location	chr8:67575375-67575376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67544478..67546833-chr8:67572717..67575425,2	MCF-7	breast:
2	chr8:67574428..67578736-chr8:67972128..67976386,5	K562	blood:
3	chr8:67574352..67576539-chr8:67582094..67584392,3	MCF-7	breast:
4	chr8:67574105..67581178-chr8:67622567..67628099,10	MCF-7	breast:
5	chr8:67432990..67435189-chr8:67574408..67576343,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000104205	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]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[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];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987253	1.00[EUR][1000 genomes]
rs11987254	1.00[EUR][1000 genomes]
rs11987271	0.96[EUR][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988213	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]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs11994827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995031	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];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	0.83[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];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs12114868	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933032	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]
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[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs28432871	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28572179	0.85[EUR][1000 genomes]
rs28589429	0.85[EUR][1000 genomes]
rs34301114	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078037	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	0.98[AFR][1000 genomes];1.00[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[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs56682762	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56742359	0.85[EUR][1000 genomes]
rs56810217	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56911449	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57125106	0.96[EUR][1000 genomes]
rs57351080	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58454063	0.85[EUR][1000 genomes]
rs58806068	0.85[EUR][1000 genomes]
rs59058682	1.00[ASN][1000 genomes]
rs59089124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59410806	1.00[EUR][1000 genomes]
rs59643912	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60165103	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs60655524	0.80[EUR][1000 genomes]
rs60784079	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61469007	0.85[EUR][1000 genomes]
rs61589642	1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6982407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6985273	1.00[CEU][hapmap]
rs6986439	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.85[EUR][1000 genomes]
rs6991992	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];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];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998718	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];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];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[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];1.00[YRI][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	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250238	1.00[EUR][1000 genomes]
rs73250241	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250244	1.00[EUR][1000 genomes]
rs73250249	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250250	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250262	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73251887	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253909	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253964	1.00[ASN][1000 genomes]
rs73253968	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];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[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67546200-67576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:67547600-67575800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:67547600-67576600	Weak transcription	Esophagus	oesophagus
4	chr8:67548000-67576600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:67558800-67575800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:67563000-67575400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:67564000-67575400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:67564200-67575400	Weak transcription	HMEC	breast
9	chr8:67564200-67576400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:67564400-67576600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:67571000-67575400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:67572800-67575400	Weak transcription	NHEK	skin
13	chr8:67573000-67575400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:67573000-67575400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:67574200-67576000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr8:67574200-67576600	Active TSS	GM12878-XiMat	blood
17	chr8:67574200-67577400	Active TSS	Right Atrium	heart
18	chr8:67574200-67578600	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr8:67574400-67575400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:67574400-67575400	Flanking Active TSS	Thymus	Thymus
21	chr8:67574400-67576400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr8:67574400-67576600	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr8:67574400-67576600	Active TSS	Right Ventricle	heart
24	chr8:67574400-67576800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:67574600-67575400	Weak transcription	A549	lung
26	chr8:67574600-67575600	Enhancers	Fetal Brain Male	brain
27	chr8:67574600-67575800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:67574600-67576400	Active TSS	Rectal Smooth Muscle	rectum
29	chr8:67574600-67576600	Active TSS	Colonic Mucosa	Colon
30	chr8:67574600-67576600	Weak transcription	Stomach Mucosa	stomach
31	chr8:67574600-67576600	Weak transcription	Spleen	Spleen
32	chr8:67574600-67576800	Active TSS	HSMMtube	muscle
33	chr8:67574600-67577400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:67574600-67578000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:67574600-67580600	Active TSS	Aorta	Aorta
36	chr8:67574800-67575400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:67574800-67575400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:67574800-67575400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:67574800-67575400	Enhancers	Primary B cells from peripheral blood	blood
40	chr8:67574800-67575400	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:67574800-67575400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr8:67574800-67575400	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr8:67574800-67575400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr8:67574800-67575400	Weak transcription	Fetal Heart	heart
45	chr8:67574800-67575400	Enhancers	Fetal Muscle Trunk	muscle
46	chr8:67574800-67575400	Enhancers	Pancreas	Pancrea
47	chr8:67574800-67575400	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:67574800-67575600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr8:67574800-67575600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr8:67574800-67575600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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