Variant report

Variant	rs423468
Chromosome Location	chr6:14883539-14883540
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:14883074..14885637-chr6:15431868..15434468,2	K562	blood:
2	chr6:14881565..14884528-chr6:15089043..15091614,2	MCF-7	breast:
3	chr6:14882657..14885190-chr6:14887791..14890499,2	K562	blood:
4	chr6:14882855..14884940-chr6:15106180..15108933,2	K562	blood:
5	chr6:14881770..14884048-chr6:15014899..15017508,2	K562	blood:

Variant related genes	Relation type
ENSG00000234261	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10949261	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12190539	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12374664	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1258993	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes]
rs16875782	0.81[EUR][1000 genomes]
rs16875788	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16875810	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2124291	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2168315	0.94[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs373633	0.94[CEU][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs387877	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs389438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs394849	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs403392	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs410494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41472949	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs425233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs443427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs52875	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59165934	0.81[EUR][1000 genomes]
rs62390307	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390308	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390309	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390310	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390312	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390313	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390314	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62390316	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390318	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390319	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390320	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62390321	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912084	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6912613	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72826859	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72826868	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72826874	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72826878	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9476670	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9476671	0.92[EUR][1000 genomes]
rs9476672	0.90[EUR][1000 genomes];0.82[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	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
2	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
3	nsv1017572	chr6:14830510-14906933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:14871600-14886600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:14876800-14883600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:14877400-14889000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:14878200-14885600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:14878400-14884200	Weak transcription	Fetal Thymus	thymus
6	chr6:14878600-14883600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr6:14879200-14884400	Weak transcription	K562	blood
8	chr6:14880200-14884800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:14880200-14884800	Enhancers	Adipose Nuclei	Adipose
10	chr6:14880400-14884800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:14880400-14886400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:14880400-14886400	Enhancers	Fetal Stomach	stomach
13	chr6:14880600-14884200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr6:14880600-14884800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:14880800-14884200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:14880800-14889000	Weak transcription	Spleen	Spleen
17	chr6:14881000-14884400	Enhancers	NH-A	brain
18	chr6:14881000-14885000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:14881200-14884600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:14881200-14884800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:14881400-14883600	Enhancers	Stomach Mucosa	stomach
22	chr6:14881400-14883800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:14881400-14883800	Enhancers	Osteobl	bone
24	chr6:14881400-14884400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:14881600-14888800	Weak transcription	A549	lung
26	chr6:14881800-14883800	Enhancers	HSMM	muscle
27	chr6:14881800-14884400	Enhancers	Right Ventricle	heart
28	chr6:14881800-14884800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr6:14882000-14883600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:14882000-14886600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr6:14882200-14884800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:14882400-14883600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:14882400-14883600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr6:14882400-14884200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr6:14882400-14884600	Enhancers	Psoas Muscle	Psoas
36	chr6:14882400-14884800	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr6:14882400-14884800	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr6:14882400-14884800	Enhancers	Fetal Muscle Leg	muscle
39	chr6:14882400-14885200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:14882400-14885200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:14882600-14883600	Enhancers	Fetal Heart	heart
42	chr6:14882600-14883600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr6:14882600-14883800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:14882600-14884600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:14882600-14884800	Enhancers	H9 Cell Line	embryonic stem cell
46	chr6:14882600-14884800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:14882600-14884800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr6:14882600-14884800	Enhancers	Fetal Muscle Trunk	muscle
49	chr6:14882800-14884600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
50	chr6:14882800-14884800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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