Variant report

Variant	rs3777776
Chromosome Location	chr6:12133513-12133514
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:12132998..12134501-chr6:12138713..12141080,2	K562	blood:
2	chr6:12125066..12129588-chr6:12131226..12134422,5	K562	blood:
3	chr6:12132409..12134498-chr6:12138721..12141080,2	K562	blood:
4	chr6:12125121..12130704-chr6:12130846..12136082,9	K562	blood:
5	chr6:12132489..12134557-chr6:12159288..12161389,2	K562	blood:

Variant related genes	Relation type
ENSG00000095951	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10947758	0.87[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947793	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12199075	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12210300	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12213070	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13193986	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13206426	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13209918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1998528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2228209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2228215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3777755	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3777760	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3777761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3822925	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4377779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4467770	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4714201	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4714232	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6939913	0.86[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7383768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752678	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9296258	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs9357299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9366985	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369076	0.86[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs9369083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9369108	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9380859	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394538	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	nsv830586	chr6:12130076-12295334	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12117200-12136800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr6:12118400-12138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:12119800-12138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:12121400-12150200	Weak transcription	Fetal Brain Male	brain
5	chr6:12121600-12136800	Weak transcription	Hela-S3	cervix
6	chr6:12122000-12134600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:12122000-12136600	Weak transcription	Osteobl	bone
8	chr6:12122000-12138200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:12122200-12137600	Weak transcription	Brain Anterior Caudate	brain
10	chr6:12122200-12137600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:12122200-12137600	Weak transcription	Brain Substantia Nigra	brain
12	chr6:12122200-12137800	Weak transcription	HMEC	breast
13	chr6:12122200-12138600	Weak transcription	Colonic Mucosa	Colon
14	chr6:12122200-12138600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:12122200-12138600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:12122200-12138800	Weak transcription	Ovary	ovary
17	chr6:12122200-12138800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:12122200-12139000	Weak transcription	Spleen	Spleen
19	chr6:12122200-12139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr6:12122400-12136400	Weak transcription	Small Intestine	intestine
22	chr6:12122400-12138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr6:12122400-12138600	Weak transcription	Lung	lung
24	chr6:12122400-12139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:12122400-12139200	Weak transcription	Placenta	Placenta
26	chr6:12122400-12139800	Weak transcription	Esophagus	oesophagus
27	chr6:12122600-12136000	Weak transcription	Fetal Lung	lung
28	chr6:12122600-12138200	Weak transcription	Primary B cells from cord blood	blood
29	chr6:12122600-12139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:12122800-12137200	Weak transcription	NHDF-Ad	bronchial
31	chr6:12122800-12137800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:12122800-12138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr6:12122800-12138600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:12122800-12138600	Weak transcription	Gastric	stomach
35	chr6:12122800-12138600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:12122800-12138600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr6:12122800-12138800	Weak transcription	Fetal Kidney	kidney
38	chr6:12122800-12138800	Weak transcription	Right Ventricle	heart
39	chr6:12122800-12139400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:12122800-12142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:12123000-12138600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:12123400-12138600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr6:12123600-12134600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr6:12123600-12138200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:12124400-12138600	Weak transcription	Brain Germinal Matrix	brain
46	chr6:12124400-12139600	Weak transcription	Fetal Brain Female	brain
47	chr6:12124800-12136600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr6:12125000-12134600	Weak transcription	Aorta	Aorta
49	chr6:12125000-12134600	Weak transcription	Fetal Intestine Large	intestine
50	chr6:12125000-12136400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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