Variant report

Variant	rs17053741
Chromosome Location	chr6:126344415-126344416
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	chr6:126337555..126340680-chr6:126341631..126345244,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56144043	0.89[AFR][1000 genomes]
rs73773351	0.89[AFR][1000 genomes]
rs9491554	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9491555	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019490	chr6:126248596-126542296	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1022677	chr6:126256752-126516305	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv886636	chr6:126278230-126383476	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:126308200-126403200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:126308400-126347600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:126308400-126357000	Weak transcription	Spleen	Spleen
4	chr6:126308600-126349200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:126310800-126345400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:126314200-126361600	Weak transcription	Small Intestine	intestine
7	chr6:126317400-126355400	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:126317600-126350800	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr6:126318600-126347400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:126318600-126353600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:126319000-126348600	Weak transcription	Gastric	stomach
12	chr6:126319000-126351800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:126319000-126401400	Weak transcription	Esophagus	oesophagus
14	chr6:126325000-126353800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:126326000-126347400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr6:126328000-126350000	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr6:126329200-126351400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:126329400-126344800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:126329400-126349600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:126330000-126356600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:126330000-126392000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:126334000-126345400	Weak transcription	Psoas Muscle	Psoas
23	chr6:126334000-126354800	Weak transcription	Right Ventricle	heart
24	chr6:126334000-126359200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr6:126334400-126368200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:126334800-126367800	Weak transcription	Aorta	Aorta
27	chr6:126334800-126368400	Weak transcription	Pancreas	Pancrea
28	chr6:126334800-126391600	Weak transcription	Thymus	Thymus
29	chr6:126335000-126371600	Weak transcription	Fetal Brain Male	brain
30	chr6:126335200-126366400	Weak transcription	Dnd41	blood
31	chr6:126335200-126375400	Weak transcription	Colonic Mucosa	Colon
32	chr6:126336200-126345800	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr6:126336400-126356400	Weak transcription	Fetal Brain Female	brain
34	chr6:126337000-126357000	Weak transcription	Lung	lung
35	chr6:126337200-126348000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr6:126338200-126346200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr6:126338400-126346200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:126338400-126354800	Strong transcription	HepG2	liver
39	chr6:126338600-126345800	Strong transcription	Fetal Thymus	thymus
40	chr6:126338600-126348800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr6:126338600-126349200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:126339200-126350400	Strong transcription	Liver	Liver
43	chr6:126339200-126351600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr6:126339200-126354800	Weak transcription	Stomach Mucosa	stomach
45	chr6:126339200-126378600	Weak transcription	Brain Substantia Nigra	brain
46	chr6:126339200-126384000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr6:126339400-126346400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:126339400-126348400	Strong transcription	Adipose Nuclei	Adipose
49	chr6:126339600-126352600	Strong transcription	Fetal Intestine Large	intestine
50	chr6:126340000-126345000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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