Variant report

Variant	rs6938988
Chromosome Location	chr6:28756995-28756996
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28743433..28746834-chr6:28752955..28757172,5	K562	blood:
2	chr6:28705580..28707892-chr6:28755666..28757274,2	K562	blood:
3	chr6:28677491..28679930-chr6:28756497..28758578,2	K562	blood:
4	chr6:28739775..28742884-chr6:28756307..28759477,3	K562	blood:
5	chr6:28752766..28756379-chr6:28756550..28759154,4	K562	blood:
6	chr6:28755863..28758470-chr6:28911484..28913225,2	K562	blood:
7	chr6:28756425..28760621-chr6:28761088..28764506,5	K562	blood:
8	chr6:28746864..28751693-chr6:28754692..28757727,4	K562	blood:
9	chr6:28665488..28667691-chr6:28756212..28758692,2	K562	blood:
10	chr6:28756573..28759569-chr6:28769791..28772080,4	K562	blood:
11	chr6:28695047..28697144-chr6:28756622..28759292,2	K562	blood:
12	chr6:28755863..28759570-chr6:28911484..28914475,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000265764	Chromatin interaction
ENSG00000221191	Chromatin interaction
ENSG00000204709	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs169682	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17280797	0.88[AMR][1000 genomes]
rs17280818	0.88[AMR][1000 genomes]
rs17281186	0.88[AMR][1000 genomes]
rs17346574	0.88[AMR][1000 genomes]
rs185982	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs209189	0.81[AFR][1000 genomes]
rs209190	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs209192	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs209193	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs209199	0.92[ASN][1000 genomes]
rs2754761	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2754762	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2754765	0.89[AFR][1000 genomes]
rs2765220	0.92[ASN][1000 genomes]
rs2765222	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2765223	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3131344	0.92[ASN][1000 genomes]
rs3132372	0.92[ASN][1000 genomes]
rs398795	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs3999045	0.92[AFR][1000 genomes]
rs417919	0.92[ASN][1000 genomes]
rs453020	0.81[AFR][1000 genomes]
rs55659253	0.95[AFR][1000 genomes]
rs55764335	0.95[AFR][1000 genomes]
rs55891766	0.88[AMR][1000 genomes]
rs56030816	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56098960	0.95[AFR][1000 genomes]
rs56165011	0.95[AFR][1000 genomes]
rs56308612	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56374518	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57491524	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57791058	0.95[AFR][1000 genomes]
rs57965355	0.95[AFR][1000 genomes]
rs58258185	0.95[AFR][1000 genomes]
rs59959723	0.88[AMR][1000 genomes]
rs60252686	0.95[AFR][1000 genomes]
rs61094745	0.88[AMR][1000 genomes]
rs6916286	0.90[AFR][1000 genomes]
rs6923795	0.95[AFR][1000 genomes]
rs6939948	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751451	0.95[AFR][1000 genomes]
rs7758798	0.90[AFR][1000 genomes]
rs7760656	0.88[AMR][1000 genomes]
rs7765829	0.88[AMR][1000 genomes]
rs7766599	0.88[AMR][1000 genomes]
rs9257190	0.92[ASN][1000 genomes]
rs9257226	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28755800-28757600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:28756400-28757200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:28756400-28757200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr6:28756400-28758600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
5	chr6:28756400-28759200	Active TSS	A549	lung
6	chr6:28756600-28757000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:28756600-28757000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:28756600-28757000	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr6:28756600-28757000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr6:28756600-28757400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr6:28756600-28757600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr6:28756600-28757600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr6:28756600-28757600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:28756600-28757800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
15	chr6:28756600-28757800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr6:28756600-28758600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr6:28756600-28759000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
18	chr6:28756800-28757400	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:28756800-28757600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:28756800-28758800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:28756800-28759000	Active TSS	Placenta	Placenta
22	chr6:28756800-28759000	Active TSS	K562	blood
23	chr6:28756800-28759200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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