Variant report

Variant	rs998630
Chromosome Location	chr6:133091293-133091294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:133089987..133091533-chr6:133099189..133101057,2	MCF-7	breast:
2	chr6:133090196..133091984-chr6:133137932..133139937,2	K562	blood:
3	chr6:133089126..133091714-chr6:133094253..133096941,4	K562	blood:

Variant related genes	Relation type
ENSG00000200534	Chromatin interaction
ENSG00000221500	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11755373	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs34988221	0.81[EUR][1000 genomes]
rs3756973	1.00[CEU][hapmap]
rs58155972	0.89[EUR][1000 genomes]
rs59215803	0.89[EUR][1000 genomes]
rs59436045	0.89[EUR][1000 genomes]
rs59989552	0.89[EUR][1000 genomes]
rs60574213	0.92[EUR][1000 genomes]
rs61632110	0.89[EUR][1000 genomes]
rs73548506	0.92[EUR][1000 genomes]
rs73548522	0.92[EUR][1000 genomes]
rs73550478	0.89[EUR][1000 genomes]
rs73554430	0.89[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1015742	chr6:132933666-133285852	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 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	chr6:133061400-133098000	Weak transcription	Spleen	Spleen
2	chr6:133065000-133098000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:133081400-133096800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:133083600-133099000	Weak transcription	Left Ventricle	heart
5	chr6:133083800-133118200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:133084800-133091800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr6:133084800-133097000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:133085000-133109000	Weak transcription	GM12878-XiMat	blood
9	chr6:133085000-133114600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr6:133085000-133119000	Weak transcription	Thymus	Thymus
11	chr6:133085200-133112200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:133085200-133119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:133085400-133114400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:133085600-133098800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:133085600-133099800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr6:133085600-133118800	Weak transcription	Colon Smooth Muscle	Colon
17	chr6:133085800-133093200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:133085800-133100000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:133085800-133100000	Weak transcription	Aorta	Aorta
20	chr6:133085800-133119000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:133086000-133093600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr6:133086000-133112800	Weak transcription	Hela-S3	cervix
23	chr6:133086000-133113800	Weak transcription	NHEK	skin
24	chr6:133086000-133118800	Weak transcription	Fetal Kidney	kidney
25	chr6:133086200-133107800	Weak transcription	Osteobl	bone
26	chr6:133086400-133096200	Weak transcription	HMEC	breast
27	chr6:133086400-133097000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr6:133086400-133110200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:133086600-133099400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:133086600-133103400	Weak transcription	Brain Anterior Caudate	brain
31	chr6:133088200-133111200	Weak transcription	HUVEC	blood vessel
32	chr6:133088600-133098000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr6:133088600-133099200	Weak transcription	Fetal Brain Female	brain
34	chr6:133088600-133114600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:133089400-133094600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:133089400-133100000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr6:133089400-133104400	Weak transcription	Brain Germinal Matrix	brain
38	chr6:133089400-133110400	Weak transcription	Colonic Mucosa	Colon
39	chr6:133089400-133111800	Weak transcription	Lung	lung
40	chr6:133089400-133119400	Weak transcription	Gastric	stomach
41	chr6:133089600-133091400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:133089600-133093800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:133089600-133096800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:133089600-133097200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr6:133089600-133099000	Weak transcription	Fetal Thymus	thymus
46	chr6:133089600-133099800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:133089600-133099800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr6:133089600-133100000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr6:133089600-133100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:133089600-133100000	Weak transcription	Monocytes-CD14+_RO01746	blood

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