Variant report

Variant	rs11996976
Chromosome Location	chr8:68219257-68219258
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67974959..67977039-chr8:68219146..68220853,2	K562	blood:
2	chr8:68215076..68216603-chr8:68218593..68220372,2	MCF-7	breast:
3	chr8:68211004..68214267-chr8:68215813..68220684,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11987016	1.00[AMR][1000 genomes]
rs11991868	1.00[AMR][1000 genomes]
rs16933261	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55890263	1.00[AMR][1000 genomes]
rs56115531	1.00[AMR][1000 genomes]
rs56171881	1.00[AMR][1000 genomes]
rs56322915	1.00[AMR][1000 genomes]
rs56675350	1.00[AMR][1000 genomes]
rs56946170	1.00[AMR][1000 genomes]
rs60435775	1.00[AMR][1000 genomes]
rs60452538	1.00[AMR][1000 genomes]
rs6987385	1.00[AMR][1000 genomes]
rs73691320	1.00[AMR][1000 genomes]
rs73691326	1.00[AMR][1000 genomes]
rs73691328	1.00[AMR][1000 genomes]
rs73691329	1.00[AMR][1000 genomes]
rs73693108	1.00[AMR][1000 genomes]
rs73693123	1.00[AMR][1000 genomes]
rs73693157	1.00[AMR][1000 genomes]
rs73693186	1.00[AMR][1000 genomes]
rs7815796	1.00[AMR][1000 genomes]
rs7815839	1.00[AMR][1000 genomes]
rs7820540	1.00[AMR][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	esv2752263	chr8:68170946-68788493	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1839724	chr8:68195817-68346693	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68155800-68226000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:68159000-68221400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:68162400-68231000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
5	chr8:68174000-68225600	Weak transcription	Esophagus	oesophagus
6	chr8:68175000-68219400	Weak transcription	Right Ventricle	heart
7	chr8:68176000-68219800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:68179200-68221600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
10	chr8:68199600-68219600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:68199800-68219600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:68199800-68219800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:68200200-68219600	Weak transcription	Brain Angular Gyrus	brain
14	chr8:68204400-68219600	Weak transcription	NHLF	lung
15	chr8:68208800-68226000	Weak transcription	A549	lung
16	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
17	chr8:68209800-68221400	Weak transcription	Fetal Brain Female	brain
18	chr8:68210800-68219600	Weak transcription	Fetal Heart	heart
19	chr8:68210800-68225600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr8:68210800-68225800	Weak transcription	K562	blood
21	chr8:68211000-68219400	Weak transcription	Brain Substantia Nigra	brain
22	chr8:68211000-68219600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
24	chr8:68212000-68225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:68212200-68219600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:68212200-68220000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:68212200-68220200	Weak transcription	Thymus	Thymus
28	chr8:68212200-68221200	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:68212200-68221800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:68212200-68225800	Weak transcription	Spleen	Spleen
31	chr8:68212200-68229000	Weak transcription	HepG2	liver
32	chr8:68212400-68219400	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:68212400-68219600	Weak transcription	Fetal Lung	lung
34	chr8:68212400-68219800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:68212400-68228200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:68212600-68219600	Weak transcription	NHDF-Ad	bronchial
37	chr8:68212600-68219800	Weak transcription	Brain Anterior Caudate	brain
38	chr8:68212800-68221200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:68212800-68225800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
41	chr8:68213000-68220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:68213000-68225400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:68213000-68225800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:68213200-68222200	Weak transcription	Fetal Stomach	stomach
45	chr8:68213200-68229000	Weak transcription	Small Intestine	intestine
46	chr8:68213400-68225600	Weak transcription	Brain Germinal Matrix	brain
47	chr8:68213600-68219600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr8:68213600-68219600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr8:68213600-68219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:68213600-68225000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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