Variant report

Variant	rs11984368
Chromosome Location	chr7:96768862-96768863
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:96768005-96769085	K562	blood:	n/a	n/a
2	POLR2A	chr7:96768631-96769063	K562	blood:	n/a	n/a
3	KAP1	chr7:96768306-96768942	K562	blood:	n/a	n/a
4	POLR2A	chr7:96768831-96768933	HepG2	liver:	n/a	n/a
5	CBX3	chr7:96768250-96769041	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:96747720..96750174-chr7:96767579..96769561,2	K562	blood:
2	chr7:96767307..96769566-chr7:96804209..96806523,2	K562	blood:

Variant related genes	Relation type
ACN9	TF binding region
HMGB3P21	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10256036	0.92[EUR][1000 genomes]
rs10269566	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap]
rs10499934	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap]
rs10953203	0.96[EUR][1000 genomes]
rs10953204	0.95[EUR][1000 genomes]
rs11972827	0.82[AFR][1000 genomes]
rs11976587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1199287	0.93[EUR][1000 genomes]
rs1199288	0.93[EUR][1000 genomes]
rs12670377	0.90[CEU][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs2037782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56074841	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60195718	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62499465	0.96[EUR][1000 genomes]
rs62499469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499470	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62499471	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62499474	0.82[EUR][1000 genomes]
rs62499475	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62499477	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62499478	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62499479	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6465569	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs6946160	0.81[EUR][1000 genomes]
rs73233818	0.82[AFR][1000 genomes]
rs73233828	0.84[EUR][1000 genomes]
rs73233831	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73233843	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019725	chr7:96749866-96850819	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539029	chr7:96749866-96850819	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11984368	ACN9	cis	parietal	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:96760400-96796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:96764400-96773000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:96765400-96772200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:96766000-96769800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:96766400-96769200	ZNF genes & repeats	Dnd41	blood
6	chr7:96766400-96773000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
7	chr7:96766600-96769600	ZNF genes & repeats	Primary B cells from cord blood	blood
8	chr7:96766600-96769800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:96766800-96772000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr7:96767000-96769200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:96767000-96769400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
12	chr7:96767000-96771000	Weak transcription	A549	lung
13	chr7:96767200-96769200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr7:96767200-96771600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr7:96767400-96769000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:96767400-96771600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:96767600-96769800	ZNF genes & repeats	K562	blood
18	chr7:96767600-96770000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
19	chr7:96767800-96769200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:96767800-96769800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:96767800-96769800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr7:96768000-96769000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:96768000-96769000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:96768000-96769000	ZNF genes & repeats	Ovary	ovary
25	chr7:96768000-96769000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
26	chr7:96768000-96769200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr7:96768000-96769200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:96768000-96769200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:96768000-96769200	ZNF genes & repeats	Liver	Liver
30	chr7:96768000-96769400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr7:96768000-96769600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
32	chr7:96768000-96769600	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
33	chr7:96768000-96769600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr7:96768000-96769600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:96768000-96769600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
36	chr7:96768000-96769800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:96768000-96769800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr7:96768000-96769800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:96768200-96769000	ZNF genes & repeats	Fetal Muscle Leg	muscle
40	chr7:96768200-96769000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
41	chr7:96768200-96769600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
42	chr7:96768200-96769600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
43	chr7:96768200-96769600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr7:96768400-96769000	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr7:96768400-96769000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr7:96768400-96769200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:96768400-96769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:96768400-96769400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr7:96768400-96769400	ZNF genes & repeats	GM12878-XiMat	blood
50	chr7:96768400-96789000	Weak transcription	Aorta	Aorta

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