Variant report

Variant	rs4470984
Chromosome Location	chr7:56033558-56033559
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: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	chr7:56032893..56034835-chr7:56039528..56041569,2	K562	blood:
2	chr7:56018437..56023114-chr7:56029023..56035214,11	K562	blood:
3	chr7:56017138..56022365-chr7:56030961..56033857,7	MCF-7	breast:
4	chr7:56029925..56033959-chr7:56116899..56121286,8	MCF-7	breast:
5	chr7:55638686..55640788-chr7:56032408..56034180,2	K562	blood:
6	chr7:56031349..56034408-chr7:56116793..56119463,3	K562	blood:
7	chr7:56017145..56021503-chr7:56030472..56033942,8	MCF-7	breast:
8	chr7:56031249..56033824-chr7:56141998..56144238,2	MCF-7	breast:
9	chr7:56031887..56033611-chr7:56046548..56048449,2	K562	blood:
10	chr7:56031975..56033890-chr7:56117908..56119685,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000239789	Chromatin interaction
ENSG00000146731	Chromatin interaction
ENSG00000146729	Chromatin interaction
ENSG00000146733	Chromatin interaction
ENSG00000154978	Chromatin interaction
ENSG00000129103	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10229446	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10245725	0.94[ASW][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10250964	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10252442	0.94[ASW][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10266902	0.88[ASN][1000 genomes]
rs10271662	0.94[ASW][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10272406	0.84[CHB][hapmap];0.90[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10435504	0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11238389	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11761352	0.80[JPT][hapmap]
rs11765287	0.80[JPT][hapmap]
rs11765531	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11765577	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13240915	0.80[CHB][hapmap];0.84[EUR][1000 genomes]
rs13241866	0.80[CHB][hapmap];0.86[CHD][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs13245637	0.84[YRI][hapmap]
rs2135116	0.94[ASW][hapmap];0.84[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2174461	0.80[JPT][hapmap]
rs28636652	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28678267	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28828764	0.94[ASW][hapmap];0.83[CHB][hapmap];0.91[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34016595	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35844144	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4275190	0.84[YRI][hapmap]
rs4535700	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4543497	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4947533	1.00[ASW][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4947534	0.88[YRI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4948096	1.00[ASW][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4948097	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4948099	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4948102	0.80[CHB][hapmap];0.83[YRI][hapmap];0.85[EUR][1000 genomes]
rs57153841	0.89[ASN][1000 genomes]
rs57251705	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs60517461	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6593292	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593294	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593297	1.00[ASW][hapmap];0.80[MEX][hapmap];0.84[YRI][hapmap]
rs66528253	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6943341	0.89[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6954499	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6955423	0.84[EUR][1000 genomes]
rs73132854	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73132897	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73360358	0.95[ASN][1000 genomes]
rs73360359	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7776550	0.82[EUR][1000 genomes]
rs7793921	0.84[ASW][hapmap]
rs7800001	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7811755	0.85[EUR][1000 genomes]
rs9642405	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4470984	CHCHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 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	chr7:56031600-56033600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:56031600-56033800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr7:56031800-56033600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:56031800-56033600	Active TSS	Brain Anterior Caudate	brain
6	chr7:56031800-56033600	Active TSS	Colon Smooth Muscle	Colon
7	chr7:56031800-56033600	Active TSS	A549	lung
8	chr7:56031800-56033600	Active TSS	Hela-S3	cervix
9	chr7:56031800-56033800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr7:56031800-56033800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:56031800-56033800	Active TSS	HSMMtube	muscle
12	chr7:56031800-56033800	Active TSS	NHLF	lung
13	chr7:56031800-56034400	Active TSS	Left Ventricle	heart
14	chr7:56031800-56034600	Active TSS	Right Ventricle	heart
15	chr7:56032000-56033600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:56032000-56033600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:56032000-56033600	Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:56032000-56033600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr7:56032000-56033600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:56032000-56033600	Active TSS	Brain Cingulate Gyrus	brain
21	chr7:56032000-56033600	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:56032000-56033800	Active TSS	Psoas Muscle	Psoas
23	chr7:56032000-56034000	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr7:56032200-56033600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr7:56032200-56033600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr7:56032400-56033600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:56032800-56033600	Flanking Active TSS	Liver	Liver
28	chr7:56032800-56033600	Active TSS	Fetal Heart	heart
29	chr7:56032800-56033600	Active TSS	Right Atrium	heart
30	chr7:56032800-56033800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr7:56032800-56033800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr7:56032800-56035000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr7:56033000-56033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:56033000-56033600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr7:56033000-56033600	Weak transcription	Esophagus	oesophagus
36	chr7:56033000-56033600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:56033000-56033600	Flanking Active TSS	Dnd41	blood
38	chr7:56033000-56033800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:56033000-56033800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:56033000-56033800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:56033000-56033800	Flanking Active TSS	Osteobl	bone
42	chr7:56033000-56034000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr7:56033000-56034000	Flanking Active TSS	Fetal Brain Female	brain
44	chr7:56033000-56034400	Weak transcription	Spleen	Spleen
45	chr7:56033000-56034600	Weak transcription	Gastric	stomach
46	chr7:56033000-56039200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:56033200-56033600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:56033200-56033600	Enhancers	Primary B cells from cord blood	blood
49	chr7:56033200-56033600	Enhancers	Fetal Lung	lung
50	chr7:56033200-56033600	Flanking Active TSS	Fetal Muscle Leg	muscle

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