Variant report

Variant	rs5007394
Chromosome Location	chr8:126218068-126218069
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126204575..126206211-chr8:126217254..126218910,2	K562	blood:
2	chr8:126214703..126218445-chr8:126219117..126223784,5	MCF-7	breast:
3	chr8:126217433..126218974-chr8:126675802..126677421,2	MCF-7	breast:
4	chr8:126215979..126218498-chr8:126219244..126222199,2	K562	blood:
5	chr8:126216916..126218455-chr8:126221973..126223868,2	K562	blood:
6	chr8:126213738..126215975-chr8:126217898..126220188,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10094316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106942	0.81[CHB][hapmap]
rs10112218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986135	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11995484	0.80[CHB][hapmap]
rs12542820	0.82[CHB][hapmap]
rs12544146	0.88[YRI][hapmap]
rs2384859	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891630	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4300023	0.81[CHB][hapmap]
rs4330708	0.80[CHB][hapmap]
rs4870935	0.81[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs4871574	0.80[CHB][hapmap]
rs6470338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470342	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470343	0.89[AMR][1000 genomes]
rs6470344	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995096	1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs7000553	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7460712	0.88[YRI][hapmap]
rs7461756	0.83[CHB][hapmap]
rs7813225	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816430	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817794	0.98[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7831515	0.80[CHB][hapmap]
rs7836427	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9297712	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3421913	chr8:126207819-126222864	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:126194200-126226000	Weak transcription	Ovary	ovary
3	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:126201400-126219800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:126201600-126218600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:126201600-126224000	Weak transcription	Liver	Liver
7	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:126201800-126226000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:126201800-126230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
13	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
14	chr8:126202800-126219800	Weak transcription	Left Ventricle	heart
15	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:126203000-126219000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr8:126204200-126218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:126204200-126219000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr8:126204200-126226400	Weak transcription	Pancreas	Pancrea
22	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
23	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
24	chr8:126204400-126224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:126204400-126225400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
28	chr8:126204600-126222000	Weak transcription	HepG2	liver
29	chr8:126204800-126219800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:126205200-126219000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:126205200-126219800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:126205200-126219800	Weak transcription	GM12878-XiMat	blood
33	chr8:126205200-126219800	Weak transcription	HSMMtube	muscle
34	chr8:126205200-126222400	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr8:126205200-126224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr8:126205200-126231200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:126205400-126230000	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:126205600-126219000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:126205600-126220000	Weak transcription	A549	lung
40	chr8:126206400-126219800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:126206400-126219800	Weak transcription	Brain Substantia Nigra	brain
42	chr8:126206400-126222200	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:126206600-126218800	Weak transcription	Fetal Intestine Large	intestine
44	chr8:126208000-126219800	Weak transcription	Brain Cingulate Gyrus	brain
45	chr8:126208800-126219400	Weak transcription	Dnd41	blood
46	chr8:126209600-126219800	Weak transcription	Right Ventricle	heart
47	chr8:126214400-126225400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr8:126214400-126226000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr8:126214400-126226200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:126214400-126237400	Weak transcription	Thymus	Thymus

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