Variant report

Variant	rs12181630
Chromosome Location	chr6:117880468-117880469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117879233..117881593-chr6:117893775..117896494,2	K562	blood:
2	chr6:117868602..117871781-chr6:117879048..117881527,3	K562	blood:
3	chr6:117801260..117807350-chr6:117876231..117882356,8	MCF-7	breast:
4	chr6:117879316..117881154-chr6:117888859..117891672,2	K562	blood:

Variant related genes	Relation type
ENSG00000047932	Chromatin interaction
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10484301	1.00[ASW][hapmap]
rs12181707	0.81[LWK][hapmap]
rs12182243	0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs12183926	0.80[AFR][1000 genomes]
rs17079406	1.00[LWK][hapmap];0.92[MKK][hapmap];1.00[AMR][1000 genomes]
rs41444649	0.87[YRI][hapmap]
rs41482448	1.00[YRI][hapmap]
rs41528247	0.87[YRI][hapmap]
rs59241104	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489216	0.80[AFR][1000 genomes]
rs9489219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489221	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489224	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489225	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489233	1.00[AMR][1000 genomes]
rs9489234	1.00[AMR][1000 genomes]
rs9489236	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489237	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489239	1.00[AMR][1000 genomes]
rs9489240	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489241	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9489242	1.00[ASW][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9688613	0.85[LWK][hapmap];1.00[YRI][hapmap]
rs9767720	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117869800-117882600	Weak transcription	Brain Germinal Matrix	brain
2	chr6:117869800-117883200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:117869800-117884200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:117869800-117884400	Weak transcription	Ovary	ovary
5	chr6:117869800-117885200	Weak transcription	Fetal Stomach	stomach
6	chr6:117869800-117889000	Weak transcription	Left Ventricle	heart
7	chr6:117869800-117889400	Weak transcription	Psoas Muscle	Psoas
8	chr6:117869800-117889600	Weak transcription	Colonic Mucosa	Colon
9	chr6:117869800-117894400	Weak transcription	Lung	lung
10	chr6:117869800-117903800	Weak transcription	Spleen	Spleen
11	chr6:117869800-117904000	Weak transcription	Gastric	stomach
12	chr6:117869800-117904000	Weak transcription	Pancreas	Pancrea
13	chr6:117870000-117881600	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr6:117870000-117881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:117870000-117882600	Weak transcription	Adipose Nuclei	Adipose
16	chr6:117870000-117884200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:117870000-117886800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:117870200-117884200	Weak transcription	Fetal Brain Male	brain
19	chr6:117870400-117883000	Weak transcription	Placenta	Placenta
20	chr6:117870400-117883800	Weak transcription	Brain Angular Gyrus	brain
21	chr6:117870400-117883800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr6:117870400-117884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr6:117870400-117884000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr6:117870400-117884200	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:117870400-117884400	Weak transcription	Fetal Intestine Small	intestine
26	chr6:117870400-117886800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:117870400-117889600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr6:117870400-117889600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr6:117870600-117884000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:117870600-117884200	Weak transcription	Fetal Intestine Large	intestine
31	chr6:117870600-117886800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:117871000-117889600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:117871000-117889800	Weak transcription	Fetal Heart	heart
34	chr6:117871200-117884200	Weak transcription	Fetal Kidney	kidney
35	chr6:117871200-117888400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:117871400-117885200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:117871600-117922600	Weak transcription	Stomach Mucosa	stomach
38	chr6:117872000-117883400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:117872000-117884000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr6:117872200-117884200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:117872200-117887000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr6:117872200-117887400	Weak transcription	Fetal Lung	lung
43	chr6:117872200-117894600	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr6:117872200-117905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr6:117872400-117881600	Weak transcription	Primary T cells from cord blood	blood
46	chr6:117872400-117881600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:117872400-117882400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr6:117872400-117884000	Weak transcription	Fetal Thymus	thymus
49	chr6:117872400-117885800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr6:117872400-117889000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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