Variant report

Variant	rs6457967
Chromosome Location	chr6:37002012-37002013
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:36996690..36999564-chr6:37000125..37002261,3	MCF-7	breast:
2	chr6:36999943..37003215-chr6:37137144..37140064,3	MCF-7	breast:
3	chr6:36999933..37002459-chr6:37159726..37162067,2	K562	blood:
4	chr6:36998830..37003518-chr6:37005337..37008054,4	K562	blood:
5	chr6:36996704..36998294-chr6:37000427..37002099,2	K562	blood:
6	chr6:37001432..37004372-chr6:37005152..37007455,4	K562	blood:
7	chr6:36993041..37002133-chr6:37135266..37141596,21	K562	blood:
8	chr6:36998393..36999918-chr6:37001477..37003042,2	K562	blood:
9	chr6:36998546..37003214-chr6:37136049..37138990,5	K562	blood:
10	chr6:37001172..37003656-chr6:37177575..37179330,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1150791	1.00[ASN][1000 genomes]
rs11755152	0.82[CEU][hapmap]
rs61621623	0.84[AFR][1000 genomes]
rs6457966	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916936	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72848075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73411533	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs6457967	FGD2	Cis_1M	lymphoblastoid	RTeQTL
rs6457967	HBD	trans	brain	seeQTL
rs6457967	INHBA	trans	brain	seeQTL
rs6457967	HBG2	trans	brain	seeQTL
rs6457967	DUSP2	trans	brain	seeQTL
rs6457967	HBG1	trans	brain	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36986800-37006600	Weak transcription	Colonic Mucosa	Colon
2	chr6:36988600-37006600	Weak transcription	Fetal Intestine Small	intestine
3	chr6:36990200-37006600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:36992600-37005800	Weak transcription	Liver	Liver
5	chr6:36992800-37006600	Weak transcription	Gastric	stomach
6	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr6:36995800-37006600	Weak transcription	Lung	lung
8	chr6:36997400-37002400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr6:36997400-37013800	Weak transcription	Esophagus	oesophagus
10	chr6:36998800-37006200	Weak transcription	Adipose Nuclei	Adipose
11	chr6:37000200-37002600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:37000400-37015200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:37000600-37002600	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:37000800-37002400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr6:37001000-37002600	Enhancers	K562	blood
16	chr6:37001200-37002200	Genic enhancers	Monocytes-CD14+_RO01746	blood
17	chr6:37001200-37002600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:37001200-37003000	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr6:37001400-37002600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr6:37001600-37002400	Genic enhancers	Primary B cells from cord blood	blood
21	chr6:37001600-37003000	Genic enhancers	Primary B cells from peripheral blood	blood
22	chr6:37001600-37003200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr6:37001600-37007600	Weak transcription	GM12878-XiMat	blood
24	chr6:37001800-37002200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:37002000-37002400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:37002000-37005400	Weak transcription	Spleen	Spleen
27	chr6:37002000-37006000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr6:37002000-37006000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:37002000-37006800	Weak transcription	Pancreas	Pancrea
30	chr6:37002000-37009200	Weak transcription	Primary T cells fromperipheralblood	blood

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