Variant report

Variant	rs11748905
Chromosome Location	chr5:80934634-80934635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:80934108..80935930-chr5:80938567..80940586,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11740343	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv882236	chr5:80930992-80999768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
3	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
5	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
6	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
7	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
12	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
13	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
16	chr5:80922600-80935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:80922600-80937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:80922800-80935000	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
20	chr5:80923200-80942000	Weak transcription	Fetal Intestine Small	intestine
21	chr5:80923200-80947000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr5:80923200-80948400	Weak transcription	K562	blood
23	chr5:80923400-80938400	Weak transcription	HUVEC	blood vessel
24	chr5:80923800-80936000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:80924200-80962800	Weak transcription	Ovary	ovary
26	chr5:80924800-80972000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:80926200-80943200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:80926200-80943400	Weak transcription	Fetal Kidney	kidney
29	chr5:80926200-80947000	Weak transcription	Fetal Brain Male	brain
30	chr5:80927800-80934800	Weak transcription	HSMM	muscle
31	chr5:80928600-80943600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr5:80928800-80935000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:80929000-80934800	Genic enhancers	Dnd41	blood
34	chr5:80929600-80940200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:80930000-80934800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:80930000-80940000	Weak transcription	GM12878-XiMat	blood
37	chr5:80930400-80947400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:80930600-80935200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:80930800-80945000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:80930800-80953400	Weak transcription	Right Ventricle	heart
41	chr5:80931000-80952800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr5:80931200-80935200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:80932200-80943600	Weak transcription	Fetal Brain Female	brain
44	chr5:80932200-80952000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:80932200-80952200	Weak transcription	Fetal Muscle Leg	muscle
46	chr5:80932200-80952800	Weak transcription	Adipose Nuclei	Adipose
47	chr5:80932400-80942600	Weak transcription	Primary B cells from peripheral blood	blood
48	chr5:80932400-80963000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr5:80932800-80940200	Weak transcription	Primary B cells from cord blood	blood
50	chr5:80932800-80947400	Weak transcription	Primary T cells from cord blood	blood

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