Variant report

Variant	rs7745409
Chromosome Location	chr6:34625675-34625676
allele	A/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34623901..34626181-chr6:34657612..34659436,2	MCF-7	breast:
2	chr6:34615191..34621424-chr6:34622750..34629225,8	K562	blood:
3	chr6:34624273..34628240-chr6:34629354..34635168,7	K562	blood:
4	chr6:34624269..34626761-chr6:34723872..34726959,3	MCF-7	breast:
5	chr6:34625394..34627775-chr6:34723853..34725702,2	K562	blood:
6	chr6:34625375..34627053-chr6:34663651..34665765,2	K562	blood:
7	chr6:34624656..34626741-chr6:34662281..34665982,4	MCF-7	breast:
8	chr6:34624408..34626626-chr6:34638129..34641870,3	MCF-7	breast:
9	chr6:34618776..34621616-chr6:34625055..34627010,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000124562	Chromatin interaction
ENSG00000272288	Chromatin interaction
ENSG00000196821	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs3734267	1.00[EUR][1000 genomes]
rs57048285	1.00[EUR][1000 genomes]
rs57157056	1.00[EUR][1000 genomes]
rs57827813	1.00[AFR][1000 genomes]
rs58971485	1.00[EUR][1000 genomes]
rs59183825	1.00[EUR][1000 genomes]
rs60220209	1.00[EUR][1000 genomes]
rs61316456	1.00[EUR][1000 genomes]
rs61510762	1.00[EUR][1000 genomes]
rs61732794	1.00[EUR][1000 genomes]
rs6901047	1.00[EUR][1000 genomes]
rs6906562	1.00[EUR][1000 genomes]
rs6908049	1.00[EUR][1000 genomes]
rs6913199	1.00[EUR][1000 genomes]
rs6913396	1.00[EUR][1000 genomes]
rs6919218	1.00[EUR][1000 genomes]
rs6921954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6938501	1.00[EUR][1000 genomes]
rs73407800	1.00[EUR][1000 genomes]
rs73409960	1.00[EUR][1000 genomes]
rs73409969	1.00[EUR][1000 genomes]
rs73409978	1.00[EUR][1000 genomes]
rs73409980	1.00[EUR][1000 genomes]
rs73409982	1.00[EUR][1000 genomes]
rs73409987	1.00[EUR][1000 genomes]
rs73409995	1.00[EUR][1000 genomes]
rs73409996	1.00[EUR][1000 genomes]
rs73410000	1.00[EUR][1000 genomes]
rs73411933	1.00[EUR][1000 genomes]
rs73411950	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73411961	1.00[EUR][1000 genomes]
rs73411997	1.00[EUR][1000 genomes]
rs73413803	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73413867	1.00[EUR][1000 genomes]
rs7738897	1.00[EUR][1000 genomes]
rs7739387	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7741204	1.00[EUR][1000 genomes]
rs7742598	1.00[EUR][1000 genomes]
rs7748850	1.00[EUR][1000 genomes]
rs7758202	1.00[EUR][1000 genomes]
rs7762266	1.00[EUR][1000 genomes]
rs7763026	1.00[EUR][1000 genomes]
rs7766367	1.00[EUR][1000 genomes]
rs7768926	1.00[EUR][1000 genomes]
rs7772931	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv885793	chr6:34520267-34886436	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830640	chr6:34542489-34714677	Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
9	nsv885794	chr6:34561585-34673149	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
10	nsv1032557	chr6:34565802-34802008	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv538196	chr6:34565802-34802008	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	esv2763967	chr6:34566255-34925463	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
13	nsv1020710	chr6:34607214-34890143	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7745409	PHYH	trans	lymphoblastoid	seeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34603600-34625800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:34621600-34626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:34623400-34625800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr6:34623400-34625800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:34623600-34625800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:34623800-34625800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr6:34623800-34625800	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr6:34623800-34625800	Enhancers	Gastric	stomach
9	chr6:34623800-34627000	Enhancers	Pancreas	Pancrea
10	chr6:34624000-34625800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:34624000-34625800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr6:34624000-34625800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:34624000-34625800	Weak transcription	Lung	lung
14	chr6:34624000-34625800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr6:34624000-34625800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:34624000-34625800	Flanking Active TSS	Osteobl	bone
17	chr6:34624000-34626000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:34624000-34626000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:34624000-34626200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr6:34624000-34626400	Enhancers	Small Intestine	intestine
21	chr6:34624200-34625800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:34624200-34625800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:34624200-34625800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr6:34624200-34625800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr6:34624200-34625800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:34624200-34625800	Flanking Active TSS	Liver	Liver
27	chr6:34624200-34625800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr6:34624200-34625800	Flanking Active TSS	Stomach Mucosa	stomach
29	chr6:34624200-34625800	Flanking Active TSS	HepG2	liver
30	chr6:34624200-34625800	Flanking Active TSS	HSMMtube	muscle
31	chr6:34624200-34625800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr6:34624200-34626000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:34624200-34626000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:34624200-34626000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr6:34624200-34626000	Flanking Active TSS	Hela-S3	cervix
36	chr6:34624200-34627200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr6:34624400-34625800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:34624400-34625800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr6:34624400-34625800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr6:34624400-34625800	Flanking Active TSS	HUVEC	blood vessel
41	chr6:34624400-34625800	Flanking Active TSS	NHLF	lung
42	chr6:34624400-34626000	Flanking Active TSS	Dnd41	blood
43	chr6:34624400-34626200	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:34624400-34627200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:34624600-34625800	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr6:34624600-34625800	Active TSS	Fetal Muscle Trunk	muscle
47	chr6:34624600-34625800	Active TSS	Ovary	ovary
48	chr6:34624600-34625800	Flanking Active TSS	NH-A	brain
49	chr6:34624800-34625800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:34624800-34625800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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