Variant report

Variant	rs219939
Chromosome Location	chr6:12138126-12138127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1205878	1.00[ASN][1000 genomes]
rs1205885	1.00[ASN][1000 genomes]
rs182357	1.00[ASN][1000 genomes]
rs1988815	1.00[ASN][1000 genomes]
rs209802	1.00[ASN][1000 genomes]
rs209803	1.00[ASN][1000 genomes]
rs209819	1.00[ASN][1000 genomes]
rs2157498	1.00[ASN][1000 genomes]
rs219938	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219947	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs219962	1.00[ASN][1000 genomes]
rs56774672	1.00[ASN][1000 genomes]
rs56938888	1.00[ASN][1000 genomes]
rs57103791	1.00[ASN][1000 genomes]
rs57691377	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58790093	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58853119	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59856455	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60767400	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60883877	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61374931	1.00[ASN][1000 genomes]
rs61432409	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73724310	1.00[ASN][1000 genomes]
rs7775270	1.00[ASN][1000 genomes]
rs9470951	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470991	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12118400-12138400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:12119800-12138800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:12121400-12150200	Weak transcription	Fetal Brain Male	brain
4	chr6:12122000-12138200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:12122200-12138600	Weak transcription	Colonic Mucosa	Colon
6	chr6:12122200-12138600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:12122200-12138600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:12122200-12138800	Weak transcription	Ovary	ovary
9	chr6:12122200-12138800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr6:12122200-12139000	Weak transcription	Spleen	Spleen
11	chr6:12122200-12139200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:12122200-12161800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr6:12122400-12138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:12122400-12138600	Weak transcription	Lung	lung
15	chr6:12122400-12139200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:12122400-12139200	Weak transcription	Placenta	Placenta
17	chr6:12122400-12139800	Weak transcription	Esophagus	oesophagus
18	chr6:12122600-12138200	Weak transcription	Primary B cells from cord blood	blood
19	chr6:12122600-12139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:12122800-12138400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:12122800-12138600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr6:12122800-12138600	Weak transcription	Gastric	stomach
23	chr6:12122800-12138600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr6:12122800-12138600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr6:12122800-12138800	Weak transcription	Fetal Kidney	kidney
26	chr6:12122800-12138800	Weak transcription	Right Ventricle	heart
27	chr6:12122800-12139400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:12122800-12142800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:12123000-12138600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr6:12123400-12138600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:12123600-12138200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:12124400-12138600	Weak transcription	Brain Germinal Matrix	brain
33	chr6:12124400-12139600	Weak transcription	Fetal Brain Female	brain
34	chr6:12125000-12138600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:12125000-12138600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:12125000-12138800	Weak transcription	Thymus	Thymus
37	chr6:12126000-12138200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:12126600-12138200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:12127200-12138200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr6:12127400-12138200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:12128600-12148400	Weak transcription	Fetal Heart	heart
42	chr6:12128800-12138200	Weak transcription	Fetal Thymus	thymus
43	chr6:12128800-12138600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr6:12129200-12138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:12130800-12138800	Weak transcription	Pancreas	Pancrea
46	chr6:12130800-12139400	Weak transcription	Psoas Muscle	Psoas
47	chr6:12132200-12138800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr6:12132600-12138200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:12133400-12138600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr6:12133400-12139200	Weak transcription	Monocytes-CD14+_RO01746	blood

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