Variant report

Variant	rs11994827
Chromosome Location	chr8:67593795-67593796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67592223..67597727-chr8:67621903..67626151,5	MCF-7	breast:
2	chr8:67576102..67579251-chr8:67593788..67596736,3	K562	blood:
3	chr8:67585153..67588222-chr8:67592127..67596094,3	K562	blood:
4	chr8:67576102..67584643-chr8:67586059..67596736,15	K562	blood:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000175073	Chromatin interaction
ENSG00000270024	Chromatin interaction
ENSG00000213865	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10504393	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986831	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	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990322	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.85[EUR][1000 genomes]
rs11992252	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993354	1.00[EUR][1000 genomes]
rs11995031	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995253	0.81[EUR][1000 genomes]
rs11995291	0.85[EUR][1000 genomes]
rs11997554	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998194	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12114868	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932983	0.85[EUR][1000 genomes]
rs16932985	0.85[EUR][1000 genomes]
rs16932996	1.00[EUR][1000 genomes]
rs16933013	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933026	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933032	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357998	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358000	0.85[EUR][1000 genomes]
rs28432871	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28572179	0.85[EUR][1000 genomes]
rs28589429	0.85[EUR][1000 genomes]
rs34301114	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078037	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824258	0.96[EUR][1000 genomes]
rs4345540	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56682762	0.85[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	0.92[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	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	0.83[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	0.85[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	0.81[EUR][1000 genomes]
rs60655524	0.80[EUR][1000 genomes]
rs60784079	0.83[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]
rs6982202	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6982407	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986439	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986940	1.00[EUR][1000 genomes]
rs6988670	0.85[EUR][1000 genomes]
rs6991992	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998505	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998718	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003548	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008740	0.85[EUR][1000 genomes]
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	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73250238	1.00[EUR][1000 genomes]
rs73250241	0.81[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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73250262	0.85[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	0.90[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]
rs7828492	0.85[EUR][1000 genomes]
rs7830436	0.85[EUR][1000 genomes]
rs7840192	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844944	0.85[EUR][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	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:110 , 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	chr8:67580400-67605000	Weak transcription	Stomach Mucosa	stomach
3	chr8:67580600-67624400	Weak transcription	Aorta	Aorta
4	chr8:67580600-67624400	Weak transcription	Ovary	ovary
5	chr8:67580800-67594200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:67580800-67594800	Weak transcription	Pancreas	Pancrea
7	chr8:67580800-67602200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr8:67580800-67603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:67580800-67604000	Weak transcription	Gastric	stomach
10	chr8:67580800-67609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:67580800-67609200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:67580800-67623600	Weak transcription	Colonic Mucosa	Colon
13	chr8:67581000-67624600	Weak transcription	Spleen	Spleen
14	chr8:67581200-67594800	Weak transcription	Fetal Kidney	kidney
15	chr8:67581200-67601800	Weak transcription	Brain Substantia Nigra	brain
16	chr8:67581200-67601800	Weak transcription	HSMMtube	muscle
17	chr8:67581400-67595400	Weak transcription	Esophagus	oesophagus
18	chr8:67581400-67601800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:67581400-67602000	Weak transcription	Lung	lung
20	chr8:67581400-67604200	Weak transcription	Right Ventricle	heart
21	chr8:67581600-67624000	Weak transcription	Fetal Brain Male	brain
22	chr8:67582400-67614200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:67582600-67594800	Weak transcription	HepG2	liver
24	chr8:67582800-67597400	Weak transcription	Fetal Lung	lung
25	chr8:67584800-67597400	Weak transcription	Psoas Muscle	Psoas
26	chr8:67584800-67602200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:67585000-67594800	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:67587200-67594800	Weak transcription	Brain Hippocampus Middle	brain
29	chr8:67587400-67596000	Weak transcription	Small Intestine	intestine
30	chr8:67587400-67602200	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:67587600-67609000	Weak transcription	A549	lung
32	chr8:67587600-67614200	Weak transcription	Fetal Heart	heart
33	chr8:67587800-67602200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:67588400-67597000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:67588400-67598400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:67588400-67607600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:67588600-67595400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:67589000-67595600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:67589400-67597000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:67590000-67594400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:67590000-67604800	Weak transcription	Brain Anterior Caudate	brain
42	chr8:67590200-67601800	Weak transcription	Thymus	Thymus
43	chr8:67590200-67602000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:67590200-67602000	Weak transcription	Left Ventricle	heart
45	chr8:67591000-67594800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:67591000-67598200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:67591000-67599400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr8:67591000-67601600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:67591200-67594600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr8:67591200-67594800	Weak transcription	Placenta	Placenta

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