Variant report

Variant	rs34348607
Chromosome Location	chr11:74999410-74999411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74998139..75001020-chr11:75001108..75003377,2	K562	blood:
2	chr11:74995374..74998135-chr11:74999172..75001192,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1109407	1.00[EUR][1000 genomes]
rs11236363	1.00[EUR][1000 genomes]
rs11236364	1.00[EUR][1000 genomes]
rs12274382	1.00[EUR][1000 genomes]
rs12287059	1.00[EUR][1000 genomes]
rs35232368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35315061	1.00[EUR][1000 genomes]
rs35891965	1.00[EUR][1000 genomes]
rs35969092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57096650	1.00[EUR][1000 genomes]
rs60146945	1.00[AMR][1000 genomes]
rs61334831	1.00[EUR][1000 genomes]
rs61392501	1.00[EUR][1000 genomes]
rs73488706	1.00[EUR][1000 genomes]
rs73488721	1.00[EUR][1000 genomes]
rs73488794	1.00[AMR][1000 genomes]
rs73488800	1.00[AMR][1000 genomes]
rs73490707	1.00[AMR][1000 genomes]
rs73490761	1.00[AMR][1000 genomes];1.00[EUR][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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
2	chr11:74988200-75002000	Weak transcription	Thymus	Thymus
3	chr11:74988200-75008600	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:74988200-75012400	Weak transcription	Small Intestine	intestine
5	chr11:74988400-75005400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr11:74988600-75001000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:74988800-75004200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:74989000-75000200	Weak transcription	K562	blood
9	chr11:74990000-75003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:74991000-75001200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:74991400-75004000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:74991600-75004200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:74991600-75007800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:74991800-74999600	Weak transcription	HSMM	muscle
15	chr11:74991800-75000000	Weak transcription	NHDF-Ad	bronchial
16	chr11:74991800-75000400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr11:74991800-75001400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:74991800-75001400	Strong transcription	Placenta	Placenta
19	chr11:74991800-75004200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:74992000-74999800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:74992000-75003600	Strong transcription	Fetal Stomach	stomach
22	chr11:74992000-75004000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:74992400-75000000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr11:74992400-75001400	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:74992400-75003800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:74992400-75008600	Strong transcription	Primary T cells from cord blood	blood
27	chr11:74992600-75001600	Strong transcription	Fetal Intestine Large	intestine
28	chr11:74992600-75002000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:74992800-75002000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr11:74992800-75008000	Strong transcription	Fetal Intestine Small	intestine
31	chr11:74993400-75013200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:74994400-75000000	Weak transcription	HSMMtube	muscle
33	chr11:74994800-75004200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:74995200-75001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:74995400-75000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:74995600-75004000	Weak transcription	Left Ventricle	heart
37	chr11:74996400-75000800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:74996600-74999800	Weak transcription	Dnd41	blood
39	chr11:74996800-75000000	Strong transcription	Spleen	Spleen
40	chr11:74996800-75017800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:74997000-75000000	Weak transcription	Brain Hippocampus Middle	brain
42	chr11:74997200-75000000	Weak transcription	Right Ventricle	heart
43	chr11:74997800-75000800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr11:74997800-75013600	Weak transcription	Esophagus	oesophagus
45	chr11:74998200-74999800	Weak transcription	Brain Substantia Nigra	brain
46	chr11:74998200-75000000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:74998400-75000000	Weak transcription	Brain Angular Gyrus	brain
48	chr11:74998400-75000000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:74998400-75000000	Weak transcription	Pancreas	Pancrea
50	chr11:74998400-75000200	Weak transcription	Osteobl	bone

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