Variant report

Variant	rs11765364
Chromosome Location	chr7:56146310-56146311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:56146012..56147706-chr7:56153751..56155642,2	K562	blood:
2	chr7:56131866..56134691-chr7:56145964..56148262,2	MCF-7	breast:
3	chr7:56140641..56145552-chr7:56146010..56150686,7	K562	blood:
4	chr7:56139442..56142282-chr7:56145954..56148779,2	MCF-7	breast:
5	chr7:56146186..56148845-chr7:56149332..56152482,3	K562	blood:

Variant related genes	Relation type
ENSG00000129103	Chromatin interaction
ENSG00000164776	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10043	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10260048	1.00[ASW][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs10263766	0.82[CHB][hapmap]
rs1064337	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11238392	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238393	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11238395	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11764629	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11772545	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535749	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535872	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538444	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs15892	1.00[ASW][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.83[TSI][hapmap]
rs1894833	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1894834	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2002693	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2080141	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304376	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.83[MKK][hapmap];0.89[TSI][hapmap]
rs2538048	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908546	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908547	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2908548	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2965455	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4947528	1.00[ASW][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs4947529	0.88[CHB][hapmap]
rs4948090	0.82[JPT][hapmap]
rs4948093	1.00[ASW][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs55697950	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55863006	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56389944	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56401951	0.83[ASN][1000 genomes]
rs62457279	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62457281	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62457282	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62457284	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62457286	0.82[ASN][1000 genomes]
rs62457287	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62457288	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62457289	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62457291	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6593290	1.00[ASW][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.87[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs6593296	0.83[CEU][hapmap];0.83[MKK][hapmap]
rs6951202	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955663	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6965614	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6974707	1.00[ASW][hapmap];0.88[CHB][hapmap];0.86[MEX][hapmap];0.86[MKK][hapmap];0.83[TSI][hapmap]
rs73140771	0.84[AMR][1000 genomes]
rs7790255	0.88[CHB][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap]
rs7801405	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7808729	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7811889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs816407	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs816410	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8406	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649860	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	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
9	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
10	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11765364	CHCHD2	cis	lymphoblastoid	seeQTL
rs11765364	CHCHD2	cis	cerebellum	SCAN
rs11765364	CHCHD2	cis	parietal	SCAN
rs11765364	CHCHD2	Cis_1M	lymphoblastoid	RTeQTL
rs11765364	CHCHD2	cis	multi-tissue	Pritchard
rs11765364	CHCHD2	cis	lymphoblastoid	GTEx
rs11765364	LOC146325	trans	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56131800-56146800	Weak transcription	Fetal Heart	heart
2	chr7:56133200-56146400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:56133200-56147000	Weak transcription	Fetal Brain Male	brain
4	chr7:56133200-56147000	Weak transcription	Psoas Muscle	Psoas
5	chr7:56134000-56152000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:56134000-56167800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:56134200-56167600	Weak transcription	Small Intestine	intestine
8	chr7:56138800-56146800	Weak transcription	Aorta	Aorta
9	chr7:56138800-56146800	Weak transcription	HSMMtube	muscle
10	chr7:56138800-56156200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:56138800-56167600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:56139000-56146800	Weak transcription	HSMM	muscle
13	chr7:56139000-56147000	Weak transcription	NH-A	brain
14	chr7:56139200-56146400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:56140400-56152000	Strong transcription	Dnd41	blood
16	chr7:56140800-56153000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:56142000-56151600	Strong transcription	Thymus	Thymus
18	chr7:56142000-56168000	Weak transcription	GM12878-XiMat	blood
19	chr7:56142200-56149600	Weak transcription	Fetal Kidney	kidney
20	chr7:56142200-56167800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:56142400-56146600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:56142400-56156400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr7:56142600-56146800	Weak transcription	Left Ventricle	heart
24	chr7:56142600-56146800	Weak transcription	Stomach Mucosa	stomach
25	chr7:56142600-56159800	Strong transcription	Fetal Intestine Small	intestine
26	chr7:56142800-56146600	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:56143400-56150400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr7:56143800-56151000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:56143800-56153200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr7:56144000-56146800	Strong transcription	Fetal Stomach	stomach
31	chr7:56144000-56147000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:56144000-56147000	Strong transcription	Fetal Brain Female	brain
33	chr7:56144000-56147800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:56144000-56148000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:56144000-56151200	Strong transcription	Primary T cells from cord blood	blood
36	chr7:56144200-56146600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:56144200-56146800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:56144200-56147400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:56144200-56147800	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr7:56144200-56147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:56144200-56147800	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr7:56144200-56147800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:56144200-56147800	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:56144200-56147800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:56144200-56147800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:56144200-56147800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:56144200-56147800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr7:56144200-56148000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr7:56144200-56148800	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:56144200-56149800	Strong transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links