Variant report

Variant	rs7871407
Chromosome Location	chr9:14694075-14694076
allele	C/T
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	MXI1	chr9:14692332-14694164	SK-N-SH	brain:	n/a	n/a
2	KAP1	chr9:14693488-14694097	HEK293	kidney:	n/a	n/a
3	POLR2A	chr9:14692493-14694390	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:14692431-14694388	GM12891	blood:	n/a	n/a
5	REST	chr9:14692605-14694109	H1-neurons	neurons:	n/a	chr9:14693519-14693532
6	MTA3	chr9:14693159-14694252	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14685829..14688724-chr9:14693473..14695940,2	K562	blood:
2	chr9:14693520..14695525-chr9:14717829..14719510,2	MCF-7	breast:

Variant related genes	Relation type
ZDHHC21	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10115764	1.00[AMR][1000 genomes]
rs12000057	1.00[AMR][1000 genomes]
rs12001605	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12003860	1.00[AMR][1000 genomes]
rs12005931	1.00[AMR][1000 genomes]
rs12006154	1.00[AMR][1000 genomes]
rs12339211	1.00[AMR][1000 genomes]
rs1389734	1.00[AMR][1000 genomes]
rs1389736	1.00[AMR][1000 genomes]
rs1389737	1.00[AMR][1000 genomes]
rs1494347	1.00[AMR][1000 genomes]
rs1494352	1.00[AMR][1000 genomes]
rs1494355	1.00[AMR][1000 genomes]
rs1542793	1.00[AMR][1000 genomes]
rs16932123	1.00[AMR][1000 genomes]
rs2201379	1.00[AMR][1000 genomes]
rs4601430	1.00[AMR][1000 genomes]
rs4741432	1.00[AMR][1000 genomes]
rs61745880	1.00[AMR][1000 genomes]
rs6474857	1.00[AMR][1000 genomes]
rs7018782	1.00[AMR][1000 genomes]
rs7032648	1.00[AMR][1000 genomes]
rs7038300	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3362157	chr9:14542189-14791977	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv892605	chr9:14585052-14709151	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv892606	chr9:14588049-14697022	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv892609	chr9:14589173-14694302	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2752921	chr9:14593749-14694372	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv892612	chr9:14654900-14694302	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv892613	chr9:14657139-14694302	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv6482	chr9:14673695-14718568	Enhancers Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1025566	chr9:14687088-14791199	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14692200-14694200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:14692200-14694200	Active TSS	Stomach Smooth Muscle	stomach
3	chr9:14692400-14694200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:14692400-14694200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr9:14692800-14694200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr9:14693400-14694200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:14693600-14694200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:14693600-14694200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr9:14693600-14694200	Flanking Active TSS	Brain Germinal Matrix	brain
10	chr9:14693600-14694200	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr9:14693600-14694200	Flanking Active TSS	Fetal Brain Male	brain
12	chr9:14693800-14694200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
13	chr9:14693800-14694200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr9:14693800-14694200	Flanking Active TSS	Fetal Brain Female	brain
15	chr9:14693800-14694200	Flanking Active TSS	Fetal Kidney	kidney
16	chr9:14693800-14694200	Enhancers	Small Intestine	intestine
17	chr9:14693800-14694200	Enhancers	Thymus	Thymus
18	chr9:14693800-14694400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:14693800-14694400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr9:14694000-14694200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr9:14694000-14694200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr9:14694000-14694200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
23	chr9:14694000-14694200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr9:14694000-14694200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr9:14694000-14694200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr9:14694000-14694200	Active TSS	Brain Anterior Caudate	brain
27	chr9:14694000-14694200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr9:14694000-14694200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr9:14694000-14694200	Enhancers	Fetal Heart	heart
30	chr9:14694000-14694200	Enhancers	Fetal Intestine Small	intestine
31	chr9:14694000-14694200	Enhancers	Fetal Stomach	stomach
32	chr9:14694000-14694200	Enhancers	Pancreas	Pancrea
33	chr9:14694000-14694200	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr9:14694000-14694200	Enhancers	Dnd41	blood
35	chr9:14694000-14694400	Enhancers	HepG2	liver
36	chr9:14694000-14694600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr9:14694000-14695000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:14694000-14695800	Weak transcription	Psoas Muscle	Psoas
39	chr9:14694000-14704400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:14694000-14719400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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