Variant report

Variant	rs41271247
Chromosome Location	chr6:33608216-33608217
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33555453..33558278-chr6:33607870..33609566,2	K562	blood:
2	chr6:33600933..33606541-chr6:33607486..33611147,7	K562	blood:
3	chr6:33602810..33605729-chr6:33607215..33609407,2	MCF-7	breast:
4	chr6:33606855..33609657-chr6:33651468..33653388,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11752199	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11754153	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11755817	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11760139	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2296340	0.83[EUR][1000 genomes]
rs3748080	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55694657	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59929559	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62407631	0.85[ASN][1000 genomes]
rs62407634	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6902606	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6913427	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72882038	0.93[ASN][1000 genomes]
rs7755013	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7758134	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7771951	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885770	chr6:33543409-33614127	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
3	esv1817557	chr6:33584788-33614127	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	esv1813933	chr6:33587443-33614127	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33602400-33609000	Enhancers	Stomach Mucosa	stomach
2	chr6:33602400-33609400	Weak transcription	GM12878-XiMat	blood
3	chr6:33602400-33609800	Weak transcription	K562	blood
4	chr6:33602400-33617800	Weak transcription	NHLF	lung
5	chr6:33602400-33622600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:33602400-33636400	Weak transcription	HSMMtube	muscle
7	chr6:33602600-33608400	Weak transcription	Esophagus	oesophagus
8	chr6:33602600-33608600	Weak transcription	Dnd41	blood
9	chr6:33602600-33609800	Weak transcription	Fetal Lung	lung
10	chr6:33602600-33610600	Weak transcription	Right Atrium	heart
11	chr6:33602600-33614800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:33602600-33619200	Weak transcription	NHDF-Ad	bronchial
13	chr6:33602600-33623400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr6:33602600-33624400	Weak transcription	Small Intestine	intestine
15	chr6:33602600-33625400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:33602600-33625800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:33602600-33631600	Weak transcription	Osteobl	bone
18	chr6:33602800-33608400	Weak transcription	Right Ventricle	heart
19	chr6:33602800-33608800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:33602800-33613400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:33602800-33624400	Weak transcription	Pancreas	Pancrea
22	chr6:33603000-33624000	Weak transcription	HSMM	muscle
23	chr6:33603000-33628600	Weak transcription	Primary B cells from cord blood	blood
24	chr6:33603200-33619600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:33603400-33608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr6:33603400-33623000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:33603400-33626000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr6:33603400-33640400	Weak transcription	HUVEC	blood vessel
29	chr6:33603400-33641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:33603600-33608600	Weak transcription	Fetal Thymus	thymus
31	chr6:33603600-33608800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:33604400-33608400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:33604400-33608600	Genic enhancers	Fetal Intestine Small	intestine
34	chr6:33604400-33614400	Weak transcription	HepG2	liver
35	chr6:33604800-33609000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:33604800-33623000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:33604800-33623400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr6:33605000-33624400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:33605000-33625400	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:33605200-33608400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:33605200-33624000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:33605200-33624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:33605200-33636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr6:33606200-33609600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:33606400-33613200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:33606600-33609000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr6:33606600-33610000	Weak transcription	Hela-S3	cervix
48	chr6:33606600-33633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:33606800-33608400	Weak transcription	Lung	lung
50	chr6:33606800-33608400	Weak transcription	Rectal Mucosa Donor 29	rectum

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