Variant report

Variant	rs233489
Chromosome Location	chr6:14819091-14819092
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:14810836..14813701-chr6:14818024..14819741,2	K562	blood:
2	chr6:14814819..14819286-chr6:14819431..14823938,6	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11751114	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11970548	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16875778	0.84[ASN][1000 genomes]
rs16875782	0.84[ASN][1000 genomes]
rs2031298	0.84[ASN][1000 genomes]
rs233482	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233483	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233484	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233485	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233486	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs233487	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs233490	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233491	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs233494	0.94[EUR][1000 genomes]
rs4537147	0.88[ASN][1000 genomes]
rs60681633	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62390273	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62390274	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62390275	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62390276	0.88[ASN][1000 genomes]
rs62390277	0.88[ASN][1000 genomes]
rs62390278	0.84[ASN][1000 genomes]
rs62390279	0.84[ASN][1000 genomes]
rs62390280	0.84[ASN][1000 genomes]
rs62390283	0.84[ASN][1000 genomes]
rs62390284	0.84[ASN][1000 genomes]
rs62390285	0.84[ASN][1000 genomes]
rs62390288	0.84[ASN][1000 genomes]
rs6927683	0.84[ASN][1000 genomes]
rs6939905	0.84[ASN][1000 genomes]
rs9476665	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][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	nsv1023685	chr6:14514647-14838390	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1031668	chr6:14774036-15044308	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv538138	chr6:14774036-15044308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14809000-14824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:14810800-14823200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr6:14812200-14824000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:14814200-14822600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:14815400-14820000	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:14816400-14820200	Enhancers	Stomach Mucosa	stomach
7	chr6:14816400-14824200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:14816600-14819400	Enhancers	Fetal Heart	heart
9	chr6:14816800-14820800	Weak transcription	Osteobl	bone
10	chr6:14816800-14821000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:14816800-14822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:14816800-14824000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:14817000-14819600	Enhancers	Adipose Nuclei	Adipose
14	chr6:14817000-14820800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:14817000-14822000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:14817000-14822400	Weak transcription	Fetal Kidney	kidney
17	chr6:14817000-14824000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:14817400-14819600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:14817400-14819600	Enhancers	Liver	Liver
20	chr6:14817600-14822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:14817800-14819200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:14818000-14819400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:14818000-14820000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr6:14818000-14823200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:14818000-14823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:14818400-14819600	Enhancers	NHDF-Ad	bronchial
27	chr6:14818400-14819800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:14818400-14820000	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:14818400-14820000	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr6:14818600-14819400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:14818600-14819400	Enhancers	Fetal Intestine Small	intestine
32	chr6:14818600-14819600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:14818600-14820000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr6:14818800-14819400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
35	chr6:14818800-14819400	Enhancers	Colonic Mucosa	Colon
36	chr6:14818800-14819400	Enhancers	Fetal Intestine Large	intestine
37	chr6:14818800-14819400	Enhancers	Pancreas	Pancrea
38	chr6:14818800-14819600	Enhancers	Left Ventricle	heart
39	chr6:14818800-14819800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:14818800-14820000	Enhancers	Gastric	stomach
41	chr6:14818800-14824000	Weak transcription	Brain Germinal Matrix	brain
42	chr6:14819000-14819400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:14819000-14819400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:14819000-14819600	Enhancers	Right Atrium	heart
45	chr6:14819000-14819600	Enhancers	Right Ventricle	heart
46	chr6:14819000-14819800	Enhancers	HMEC	breast
47	chr6:14819000-14820000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr6:14819000-14820000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:14819000-14820200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr6:14819000-14820200	Enhancers	HUES6 Cell Line	embryonic stem cell

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