Variant report

Variant	rs6972914
Chromosome Location	chr7:55955281-55955282
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:55954730..55957503-chr7:55957932..55960617,3	K562	blood:
2	chr7:55953245..55956784-chr7:55957115..55962697,6	MCF-7	breast:
3	chr1:28655179..28656099-chr7:55955155..55955693,2	NB4	blood:
4	chr7:55954730..55957550-chr7:55957932..55963672,5	K562	blood:

Variant related genes	Relation type
ENSG00000130772	Chromatin interaction
ENSG00000265676	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13230292	0.81[EUR][1000 genomes]
rs35347591	0.81[EUR][1000 genomes]
rs6972415	0.81[EUR][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	nsv427782	chr7:55703073-56010314	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	esv3395123	chr7:55954408-55956456	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv11131	chr7:55955156-55956461	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6972914	CHCHD2	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:55954400-55955800	Active TSS	Primary T cells from cord blood	blood
2	chr7:55954400-55955800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:55954400-55955800	Active TSS	Fetal Brain Female	brain
4	chr7:55954400-55956000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:55954400-55956000	Active TSS	Brain Anterior Caudate	brain
6	chr7:55954400-55956000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr7:55954400-55956200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:55954400-55956200	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:55954400-55956200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr7:55954400-55956200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr7:55954400-55956200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:55954400-55956200	Active TSS	Rectal Smooth Muscle	rectum
13	chr7:55954400-55956400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:55954400-55956400	Active TSS	A549	lung
15	chr7:55954400-55956600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:55954400-55956600	Active TSS	Brain Germinal Matrix	brain
17	chr7:55954600-55955600	Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr7:55954600-55955800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:55954600-55955800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:55954600-55955800	Active TSS	Primary monocytes fromperipheralblood	blood
21	chr7:55954600-55955800	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:55954600-55955800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:55954600-55955800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:55954600-55955800	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:55954600-55955800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:55954600-55955800	Active TSS	Adipose Nuclei	Adipose
28	chr7:55954600-55955800	Active TSS	Liver	Liver
29	chr7:55954600-55955800	Active TSS	Colonic Mucosa	Colon
30	chr7:55954600-55955800	Active TSS	Esophagus	oesophagus
31	chr7:55954600-55955800	Active TSS	Left Ventricle	heart
32	chr7:55954600-55955800	Active TSS	Lung	lung
33	chr7:55954600-55955800	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr7:55954600-55955800	Active TSS	Small Intestine	intestine
35	chr7:55954600-55956000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:55954600-55956000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:55954600-55956000	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr7:55954600-55956000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:55954600-55956000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr7:55954600-55956000	Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:55954600-55956000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:55954600-55956000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:55954600-55956000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:55954600-55956000	Active TSS	Aorta	Aorta
45	chr7:55954600-55956000	Active TSS	Brain Cingulate Gyrus	brain
46	chr7:55954600-55956000	Active TSS	Brain Hippocampus Middle	brain
47	chr7:55954600-55956000	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr7:55954600-55956000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:55954600-55956000	Active TSS	Brain Substantia Nigra	brain
50	chr7:55954600-55956000	Active TSS	Colon Smooth Muscle	Colon

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