Variant report

Variant	rs1678676
Chromosome Location	chr6:38765329-38765330
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	chr6:38762200..38765807-chr6:38769309..38772341,3	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1615441	0.81[EUR][1000 genomes]
rs1616105	0.81[EUR][1000 genomes]
rs1617807	0.81[EUR][1000 genomes]
rs1618774	0.81[EUR][1000 genomes]
rs1618834	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1622275	0.84[ASN][1000 genomes]
rs1627917	0.81[EUR][1000 genomes]
rs1678666	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1678674	0.85[ASN][1000 genomes]
rs1678686	0.84[ASN][1000 genomes]
rs1678710	0.81[EUR][1000 genomes]
rs1678711	0.81[EUR][1000 genomes]
rs1678716	0.81[EUR][1000 genomes]
rs1678719	0.81[EUR][1000 genomes]
rs1678720	0.81[EUR][1000 genomes]
rs1678721	0.81[EUR][1000 genomes]
rs1678722	0.81[EUR][1000 genomes]
rs1678724	0.81[EUR][1000 genomes]
rs1678728	0.81[EUR][1000 genomes]
rs1678729	0.81[EUR][1000 genomes]
rs1678730	0.81[EUR][1000 genomes]
rs1678731	0.81[EUR][1000 genomes]
rs1678732	0.81[EUR][1000 genomes]
rs1678733	0.81[EUR][1000 genomes]
rs1678734	0.81[EUR][1000 genomes]
rs1678735	0.81[EUR][1000 genomes]
rs1738200	0.81[EUR][1000 genomes]
rs1738206	0.81[EUR][1000 genomes]
rs1738207	0.81[EUR][1000 genomes]
rs1738208	0.81[EUR][1000 genomes]
rs1738209	0.81[EUR][1000 genomes]
rs1738210	0.81[EUR][1000 genomes]
rs1738213	0.81[EUR][1000 genomes]
rs1738214	0.81[EUR][1000 genomes]
rs1738224	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1738226	0.84[ASN][1000 genomes]
rs1738233	0.92[ASN][1000 genomes]
rs1738234	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1738237	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1738242	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1738246	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1738249	0.85[ASN][1000 genomes]
rs6912563	0.84[ASN][1000 genomes]
rs6928298	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885817	chr6:38036420-39019503	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830642	chr6:38645056-38800657	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv830643	chr6:38726675-38905589	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv462915	chr6:38728142-38773293	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv602959	chr6:38728142-38786528	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv470814	chr6:38728142-38790149	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv462916	chr6:38747770-38782401	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv602960	chr6:38747770-38782401	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:38763400-38768600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:38763600-38765400	Enhancers	Fetal Intestine Large	intestine
3	chr6:38763600-38765600	Enhancers	Stomach Mucosa	stomach
4	chr6:38763600-38766800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:38763800-38766000	Enhancers	Fetal Intestine Small	intestine
6	chr6:38764000-38766400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:38764200-38765600	Weak transcription	Pancreas	Pancrea
8	chr6:38764200-38766400	Weak transcription	HMEC	breast
9	chr6:38764600-38765400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:38764600-38765400	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr6:38764600-38766800	Enhancers	K562	blood
12	chr6:38764800-38765600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:38764800-38768400	Enhancers	NHEK	skin
14	chr6:38765000-38765800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr6:38765000-38765800	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr6:38765000-38766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:38765200-38765600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr6:38765200-38765600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr6:38765200-38765600	Flanking Active TSS	Fetal Kidney	kidney
20	chr6:38765200-38765800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr6:38765200-38766000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:38765200-38766000	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr6:38765200-38766000	Enhancers	HUVEC	blood vessel

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