Variant report

Variant	rs219940
Chromosome Location	chr6:12138597-12138598
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2157494	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs219945	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs219949	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs220018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs220021	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs220022	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs220024	0.86[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.90[ASN][1000 genomes]
rs220025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6929481	0.99[ASN][1000 genomes]
rs9369102	0.91[ASN][1000 genomes]
rs9394589	0.81[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12119800-12138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:12121400-12150200	Weak transcription	Fetal Brain Male	brain
3	chr6:12122200-12138600	Weak transcription	Colonic Mucosa	Colon
4	chr6:12122200-12138600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:12122200-12138600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr6:12122200-12138800	Weak transcription	Ovary	ovary
7	chr6:12122200-12138800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr6:12122200-12139000	Weak transcription	Spleen	Spleen
9	chr6:12122200-12139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:12122400-12138600	Weak transcription	Lung	lung
12	chr6:12122400-12139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:12122400-12139200	Weak transcription	Placenta	Placenta
14	chr6:12122400-12139800	Weak transcription	Esophagus	oesophagus
15	chr6:12122600-12139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr6:12122800-12138600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:12122800-12138600	Weak transcription	Gastric	stomach
18	chr6:12122800-12138600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:12122800-12138600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr6:12122800-12138800	Weak transcription	Fetal Kidney	kidney
21	chr6:12122800-12138800	Weak transcription	Right Ventricle	heart
22	chr6:12122800-12139400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:12122800-12142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:12123000-12138600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:12123400-12138600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:12124400-12138600	Weak transcription	Brain Germinal Matrix	brain
27	chr6:12124400-12139600	Weak transcription	Fetal Brain Female	brain
28	chr6:12125000-12138600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:12125000-12138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:12125000-12138800	Weak transcription	Thymus	Thymus
31	chr6:12128600-12148400	Weak transcription	Fetal Heart	heart
32	chr6:12128800-12138600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:12129200-12138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:12130800-12138800	Weak transcription	Pancreas	Pancrea
35	chr6:12130800-12139400	Weak transcription	Psoas Muscle	Psoas
36	chr6:12132200-12138800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:12133400-12138600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:12133400-12139200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:12134000-12138800	Strong transcription	K562	blood
40	chr6:12134600-12138600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:12134600-12138600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr6:12134800-12138800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr6:12134800-12149600	Weak transcription	Brain Angular Gyrus	brain
44	chr6:12135000-12140200	Weak transcription	Aorta	Aorta
45	chr6:12136200-12138600	Strong transcription	GM12878-XiMat	blood
46	chr6:12136200-12139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr6:12136400-12138600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:12136400-12138800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:12136800-12138600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:12136800-12138600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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