Variant report

Variant	rs7000553
Chromosome Location	chr8:126227258-126227259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126225448..126228099-chr8:126228742..126231681,2	K562	blood:
2	chr8:126226080..126227929-chr8:126441296..126444095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10094316	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10100556	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10112218	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11986135	0.92[ASN][1000 genomes]
rs2384859	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2891630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4870935	0.91[ASN][1000 genomes]
rs5007394	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470338	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470339	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6470342	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6470343	0.85[AMR][1000 genomes]
rs6470344	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995096	0.91[ASN][1000 genomes]
rs7813225	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7816430	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7817794	0.93[EUR][1000 genomes]
rs7836427	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:98 , 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	chr8:126201200-126228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:126201600-126231200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:126201600-126231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr8:126201600-126236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:126201800-126230200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:126202200-126232200	Weak transcription	Primary B cells from cord blood	blood
8	chr8:126202600-126237400	Weak transcription	Fetal Thymus	thymus
9	chr8:126202800-126231600	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr8:126203200-126231400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr8:126203800-126231000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr8:126204200-126231000	Weak transcription	Brain Angular Gyrus	brain
13	chr8:126204200-126231200	Weak transcription	Brain Hippocampus Middle	brain
14	chr8:126204400-126238600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:126204400-126239600	Weak transcription	Primary T cells from cord blood	blood
16	chr8:126205200-126231200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:126205400-126230000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr8:126214400-126237400	Weak transcription	Thymus	Thymus
19	chr8:126214400-126238600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:126214600-126228600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:126214600-126230800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:126214600-126231200	Weak transcription	Fetal Lung	lung
23	chr8:126214600-126231400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:126217400-126238600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:126217800-126230400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:126218000-126231600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr8:126220200-126231400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:126220400-126231000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:126220400-126231200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:126222800-126231200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr8:126223000-126229000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:126224800-126229000	Weak transcription	HepG2	liver
33	chr8:126226200-126230400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr8:126226600-126231000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:126226600-126231000	Weak transcription	Fetal Kidney	kidney
36	chr8:126226600-126231200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:126226600-126231200	Weak transcription	Colon Smooth Muscle	Colon
38	chr8:126226600-126235000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:126226800-126228000	Weak transcription	Pancreas	Pancrea
40	chr8:126226800-126229800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:126226800-126229800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:126226800-126229800	Weak transcription	Liver	Liver
43	chr8:126226800-126229800	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:126226800-126229800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:126226800-126229800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:126226800-126229800	Weak transcription	NHDF-Ad	bronchial
47	chr8:126226800-126230000	Weak transcription	Fetal Intestine Large	intestine
48	chr8:126226800-126230000	Weak transcription	Fetal Intestine Small	intestine
49	chr8:126226800-126230000	Weak transcription	Placenta	Placenta
50	chr8:126226800-126230000	Weak transcription	Hela-S3	cervix

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