Variant report

Variant	rs11767454
Chromosome Location	chr7:56032902-56032903
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:56032893..56034835-chr7:56039528..56041569,2	K562	blood:
2	chr1:198125421..198126357-chr7:56032266..56032946,2	Hela-S3	cervix:
3	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
4	chr7:56031349..56032951-chr7:56117963..56119524,2	K562	blood:
5	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
6	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
7	chr7:55638686..55640788-chr7:56032408..56034180,2	K562	blood:
8	chr17:74733067..74733875-chr7:56032322..56032938,2	Hela-S3	cervix:
9	chr16:2204698..2205552-chr7:56032394..56032937,2	Hela-S3	cervix:
10	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
11	chr5:43514694..43515572-chr7:56032328..56033081,2	Hela-S3	cervix:
12	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
13	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:
14	chr7:56031887..56033611-chr7:56046548..56048449,2	K562	blood:
15	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146731	Chromatin interaction
ENSG00000161547	Chromatin interaction
ENSG00000154978	Chromatin interaction
ENSG00000092931	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000151414	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000239789	Chromatin interaction
ENSG00000129103	Chromatin interaction
ENSG00000146729	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10237524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13245637	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34929372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35160834	0.81[AFR][1000 genomes]
rs4255090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv995105	chr7:55606107-56174888	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription 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	82 gene(s)	inside rSNPs	diseases
4	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv1019400	chr7:55709827-56094540	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv529162	chr7:55800753-56174888	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
8	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
9	nsv888064	chr7:55831721-56104539	Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
12	nsv498114	chr7:55872850-56174888	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
13	nsv1034826	chr7:55962159-56092835	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv1033225	chr7:55962159-56094540	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	esv3415140	chr7:56031258-56033556	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11767454	LOC146325	trans	lymphoblastoid	RTeQTL
rs11767454	CHCHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56031400-56033800	Active TSS	Fetal Kidney	kidney
2	chr7:56031600-56033000	Active TSS	HSMM	muscle
3	chr7:56031600-56033200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:56031600-56033600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:56031600-56033800	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr7:56031800-56033000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:56031800-56033000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr7:56031800-56033000	Active TSS	Esophagus	oesophagus
9	chr7:56031800-56033000	Active TSS	Gastric	stomach
10	chr7:56031800-56033000	Active TSS	Lung	lung
11	chr7:56031800-56033000	Active TSS	Pancreas	Pancrea
12	chr7:56031800-56033000	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr7:56031800-56033000	Active TSS	Stomach Mucosa	stomach
14	chr7:56031800-56033000	Active TSS	NHDF-Ad	bronchial
15	chr7:56031800-56033000	Active TSS	NHEK	skin
16	chr7:56031800-56033200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr7:56031800-56033200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:56031800-56033200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr7:56031800-56033200	Active TSS	Aorta	Aorta
20	chr7:56031800-56033200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:56031800-56033200	Active TSS	Brain Substantia Nigra	brain
22	chr7:56031800-56033200	Active TSS	Ovary	ovary
23	chr7:56031800-56033400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:56031800-56033400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:56031800-56033400	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:56031800-56033400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:56031800-56033400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:56031800-56033400	Active TSS	Fetal Intestine Large	intestine
29	chr7:56031800-56033400	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr7:56031800-56033600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:56031800-56033600	Active TSS	Brain Anterior Caudate	brain
32	chr7:56031800-56033600	Active TSS	Colon Smooth Muscle	Colon
33	chr7:56031800-56033600	Active TSS	A549	lung
34	chr7:56031800-56033600	Active TSS	Hela-S3	cervix
35	chr7:56031800-56033800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:56031800-56033800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr7:56031800-56033800	Active TSS	HSMMtube	muscle
38	chr7:56031800-56033800	Active TSS	NHLF	lung
39	chr7:56031800-56034400	Active TSS	Left Ventricle	heart
40	chr7:56031800-56034600	Active TSS	Right Ventricle	heart
41	chr7:56032000-56033000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:56032000-56033000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:56032000-56033000	Active TSS	Primary T cells from cord blood	blood
44	chr7:56032000-56033000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:56032000-56033000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr7:56032000-56033000	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr7:56032000-56033000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:56032000-56033000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:56032000-56033000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:56032000-56033000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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