Variant report

Variant	rs219810
Chromosome Location	chr7:98627463-98627464
allele	A/G
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	chr7:98627305-98628168	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr7:98627093-98627958	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr7:98627189-98628106	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr7:98624837-98629944	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98621269..98624235-chr7:98626511..98629178,3	MCF-7	breast:
2	chr7:98618071..98621437-chr7:98626035..98628307,3	K562	blood:
3	chr7:98625274..98628239-chr7:98630668..98632654,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242687	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10215494	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10230563	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10231389	1.00[TSI][hapmap]
rs10242106	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10260884	0.91[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap]
rs11768515	1.00[EUR][1000 genomes]
rs11769458	0.87[EUR][1000 genomes]
rs122152	0.84[ASW][hapmap];0.89[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160385	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160386	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160387	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs160388	1.00[EUR][1000 genomes]
rs160390	0.87[EUR][1000 genomes]
rs160391	1.00[EUR][1000 genomes]
rs1709724	0.81[LWK][hapmap];0.87[EUR][1000 genomes]
rs1709725	1.00[EUR][1000 genomes]
rs1709727	1.00[EUR][1000 genomes]
rs17161491	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs219794	1.00[EUR][1000 genomes]
rs219796	0.87[EUR][1000 genomes]
rs219801	0.83[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs219802	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219803	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219804	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219809	1.00[EUR][1000 genomes]
rs219811	0.84[ASW][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219812	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219818	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219830	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219835	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219836	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219837	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs219840	0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310736	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310737	0.95[AMR][1000 genomes]
rs310738	0.87[EUR][1000 genomes]
rs310739	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310741	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs310742	1.00[EUR][1000 genomes]
rs310743	0.89[EUR][1000 genomes]
rs310744	1.00[EUR][1000 genomes]
rs4413705	1.00[EUR][1000 genomes]
rs60914761	0.87[EUR][1000 genomes]
rs60932686	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61239201	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6945370	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6956697	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6959321	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6960312	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6967096	1.00[EUR][1000 genomes]
rs73393198	0.87[EUR][1000 genomes]
rs73393201	0.87[EUR][1000 genomes]
rs73395129	1.00[EUR][1000 genomes]
rs73407188	1.00[EUR][1000 genomes]
rs73409107	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73409108	0.87[EUR][1000 genomes]
rs7807059	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1847495	chr7:98556216-98648069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1034506	chr7:98556216-98678440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98583800-98648800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98607200-98629200	Weak transcription	Psoas Muscle	Psoas
3	chr7:98612000-98627800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:98612400-98627800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:98612400-98632000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:98613400-98629400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:98618800-98628600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:98623400-98640200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:98624600-98637200	Strong transcription	Fetal Intestine Large	intestine
10	chr7:98624800-98627600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr7:98624800-98627600	Strong transcription	A549	lung
12	chr7:98624800-98627800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:98624800-98627800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:98624800-98627800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:98624800-98633400	Strong transcription	Brain Substantia Nigra	brain
16	chr7:98624800-98637200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr7:98624800-98644200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:98624800-98651200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr7:98624800-98653000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr7:98624800-98655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:98624800-98656600	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr7:98624800-98656600	Strong transcription	Dnd41	blood
23	chr7:98624800-98657800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:98624800-98658400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:98625000-98627600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:98625000-98627800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:98625000-98655000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr7:98625000-98656400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:98625000-98656600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:98625000-98656600	Strong transcription	Fetal Thymus	thymus
31	chr7:98625200-98627800	Strong transcription	HSMM	muscle
32	chr7:98625200-98630000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:98625200-98655200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr7:98625200-98655400	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr7:98625200-98658800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:98625400-98627600	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr7:98625400-98627600	Strong transcription	Brain Germinal Matrix	brain
38	chr7:98625400-98627600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr7:98625400-98627800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:98625400-98627800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:98625400-98627800	Strong transcription	Lung	lung
42	chr7:98625400-98627800	Strong transcription	Spleen	Spleen
43	chr7:98625400-98628200	ZNF genes & repeats	Fetal Intestine Small	intestine
44	chr7:98625400-98628600	Strong transcription	Osteobl	bone
45	chr7:98625400-98630000	Strong transcription	HepG2	liver
46	chr7:98625400-98630400	Strong transcription	Small Intestine	intestine
47	chr7:98625400-98630600	Strong transcription	NH-A	brain
48	chr7:98625400-98631400	Strong transcription	Liver	Liver
49	chr7:98625400-98633600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:98625400-98633600	Strong transcription	Brain Hippocampus Middle	brain

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