Variant report

Variant	rs12278194
Chromosome Location	chr11:108213680-108213681
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	chr11:108210268..108213021-chr11:108213358..108216468,4	K562	blood:
2	chr11:108211210..108215011-chr11:108219991..108223823,4	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11212608	1.00[AMR][1000 genomes]
rs12271798	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12272455	0.84[AFR][1000 genomes]
rs12274438	1.00[AMR][1000 genomes]
rs12277464	1.00[AMR][1000 genomes]
rs12279930	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284770	0.83[AFR][1000 genomes]
rs12288149	1.00[AMR][1000 genomes]
rs12290096	1.00[AMR][1000 genomes]
rs56355831	1.00[AMR][1000 genomes]
rs7948919	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv898384	chr11:108097333-108251211	Weak transcription Genic enhancers ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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 lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv832262	chr11:108123831-108309350	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	esv1821877	chr11:108158134-108219339	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv832263	chr11:108183372-108384391	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108094800-108244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:108145800-108235400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:108148200-108225600	Weak transcription	Esophagus	oesophagus
4	chr11:108148600-108225600	Weak transcription	Gastric	stomach
5	chr11:108176400-108225400	Weak transcription	Right Ventricle	heart
6	chr11:108182400-108220800	Weak transcription	Aorta	Aorta
7	chr11:108182400-108222200	Weak transcription	Pancreas	Pancrea
8	chr11:108182400-108223800	Weak transcription	Small Intestine	intestine
9	chr11:108192000-108222200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:108192200-108225400	Weak transcription	Brain Angular Gyrus	brain
11	chr11:108193800-108224600	Weak transcription	Fetal Heart	heart
12	chr11:108195400-108226200	Strong transcription	Primary T cells from cord blood	blood
13	chr11:108200400-108215000	Weak transcription	Thymus	Thymus
14	chr11:108200400-108224600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:108200600-108222000	Weak transcription	Spleen	Spleen
16	chr11:108200600-108222200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:108201400-108219600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr11:108201400-108221200	Weak transcription	Fetal Brain Male	brain
19	chr11:108202200-108225200	Weak transcription	Colonic Mucosa	Colon
20	chr11:108202800-108221200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:108203000-108222000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:108203200-108224400	Weak transcription	Psoas Muscle	Psoas
23	chr11:108207000-108220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:108207000-108221800	Weak transcription	Lung	lung
25	chr11:108207000-108224400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:108207000-108225400	Weak transcription	Fetal Kidney	kidney
27	chr11:108207200-108218000	Weak transcription	HepG2	liver
28	chr11:108207400-108224400	Weak transcription	Fetal Brain Female	brain
29	chr11:108207400-108234000	Weak transcription	NHLF	lung
30	chr11:108207600-108217200	Weak transcription	Brain Anterior Caudate	brain
31	chr11:108207600-108219600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:108207600-108222000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:108207600-108222200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr11:108207600-108222200	Weak transcription	NH-A	brain
35	chr11:108207600-108222400	Weak transcription	Brain Substantia Nigra	brain
36	chr11:108207800-108214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:108207800-108214200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr11:108207800-108217200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:108207800-108219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:108207800-108219800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:108207800-108220800	Weak transcription	NHDF-Ad	bronchial
42	chr11:108207800-108224400	Weak transcription	HSMMtube	muscle
43	chr11:108208000-108217200	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:108208000-108220800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:108208000-108224400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr11:108208000-108224800	Weak transcription	HUVEC	blood vessel
47	chr11:108208200-108215000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr11:108208200-108217400	Weak transcription	GM12878-XiMat	blood
49	chr11:108208200-108218200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr11:108208200-108225000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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