Variant report

Variant	rs11808311
Chromosome Location	chr1:10172650-10172651
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	chr1:10165027..10168688-chr1:10169934..10173933,4	K562	blood:
2	chr1:10170425..10172938-chr1:10179610..10181170,2	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11801988	1.00[EUR][1000 genomes]
rs11803995	1.00[EUR][1000 genomes]
rs28671063	1.00[EUR][1000 genomes]
rs41280788	1.00[EUR][1000 genomes]
rs56682893	1.00[EUR][1000 genomes]
rs56760324	1.00[EUR][1000 genomes]
rs57216908	1.00[EUR][1000 genomes]
rs58453167	0.84[EUR][1000 genomes]
rs61134758	0.94[EUR][1000 genomes]
rs61462323	1.00[EUR][1000 genomes]
rs6676768	0.84[EUR][1000 genomes]
rs6693686	1.00[EUR][1000 genomes]
rs6701103	1.00[EUR][1000 genomes]
rs72859590	1.00[EUR][1000 genomes]
rs72861431	1.00[EUR][1000 genomes]
rs72861447	1.00[EUR][1000 genomes]
rs72861453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9661116	1.00[EUR][1000 genomes]
rs9661131	1.00[EUR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10145400-10189600	Weak transcription	Psoas Muscle	Psoas
2	chr1:10145800-10197000	Weak transcription	Stomach Mucosa	stomach
3	chr1:10154800-10183000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:10158400-10178000	Strong transcription	Primary T cells from cord blood	blood
5	chr1:10158600-10174000	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:10160200-10175800	Strong transcription	Fetal Stomach	stomach
7	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:10166200-10179200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:10166600-10181200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:10167000-10181800	Weak transcription	A549	lung
12	chr1:10167200-10179200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:10167400-10173000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:10167400-10174200	Weak transcription	HepG2	liver
15	chr1:10167400-10181600	Weak transcription	Fetal Brain Male	brain
16	chr1:10167400-10188400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:10167400-10192600	Weak transcription	Small Intestine	intestine
18	chr1:10167600-10179400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:10167600-10181600	Weak transcription	Right Ventricle	heart
20	chr1:10167600-10190400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:10167600-10207400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:10167800-10184000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr1:10168200-10173000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:10169000-10178000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:10169000-10179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:10169000-10179200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:10169000-10182400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:10169200-10173000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:10169200-10175600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:10169200-10175600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:10169200-10175600	Weak transcription	K562	blood
32	chr1:10169200-10175800	Weak transcription	NHDF-Ad	bronchial
33	chr1:10169200-10177000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:10169200-10177400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:10169200-10178000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:10169200-10181600	Weak transcription	HMEC	breast
37	chr1:10169400-10173000	Weak transcription	HSMMtube	muscle
38	chr1:10169400-10175600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:10169400-10179400	Weak transcription	HSMM	muscle
40	chr1:10169400-10180400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:10169400-10195000	Weak transcription	Aorta	Aorta
42	chr1:10169600-10173000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:10169600-10173000	Weak transcription	Brain Anterior Caudate	brain
44	chr1:10169600-10173000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:10169600-10173000	Weak transcription	Dnd41	blood
46	chr1:10169600-10173000	Weak transcription	Osteobl	bone
47	chr1:10169600-10173200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:10169600-10173400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr1:10169600-10173400	Weak transcription	Brain Substantia Nigra	brain
50	chr1:10169600-10174600	Weak transcription	Fetal Lung	lung

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