Variant report

Variant	rs73399601
Chromosome Location	chr7:99947464-99947465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99947267-99947889	HL-60	blood:	n/a	n/a
2	POLR2A	chr7:99947093-99947872	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:99946591-99947827	A549	lung:	n/a	n/a
4	POLR2A	chr7:99947151-99947844	K562	blood:	n/a	n/a
5	POLR2A	chr7:99946608-99948750	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:99947043-99947885	K562	blood:	n/a	n/a
7	POLR2A	chr7:99947085-99947880	K562	blood:	n/a	n/a
8	POLR2A	chr7:99947079-99947919	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr7:99947042-99947868	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:99947214-99947465	GM12878	blood:	n/a	n/a
11	POLR2A	chr7:99947330-99947517	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:99947155-99947952	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:99947395-99947832	SK-N-MC	brain:	n/a	n/a
14	POLR2A	chr7:99947084-99947896	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:99947243-99947849	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:99947343-99947827	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99944662..99948099-chr7:100026325..100029465,3	K562	blood:
2	chr7:99947085..99950138-chr7:99951110..99954083,3	MCF-7	breast:
3	chr7:99687321..99689541-chr7:99945764..99947709,2	K562	blood:
4	chr7:99946355..99948169-chr7:99950950..99953351,3	K562	blood:
5	chr7:99942706..99944799-chr7:99946310..99948401,2	MCF-7	breast:
6	chr7:99697181..99698969-chr7:99947423..99949421,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PILRB-1	chr7:99947422-99947510	NONHSAT122358
2	lnc-PILRB-1	chr7:99947340-99947781	NONHSAT122362

No data

Variant related genes	Relation type
STAG3L5P-PVRIG2P-PILRB	TF binding region
PVRIG2P	TF binding region
PILRB	TF binding region
ENSG00000168090	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000121716	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10256481	1.00[AMR][1000 genomes]
rs1059126	0.97[AFR][1000 genomes]
rs57310628	1.00[AMR][1000 genomes]
rs58497263	1.00[AMR][1000 genomes]
rs59251177	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61246011	1.00[AMR][1000 genomes]
rs61611428	1.00[AMR][1000 genomes]
rs68049253	1.00[AMR][1000 genomes]
rs6958977	1.00[AMR][1000 genomes]
rs6968343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6970350	1.00[AMR][1000 genomes]
rs73399595	1.00[AFR][1000 genomes]
rs73401410	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401448	1.00[AMR][1000 genomes]
rs73401452	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73401466	1.00[AMR][1000 genomes]
rs73401469	1.00[AMR][1000 genomes]
rs73401478	1.00[AMR][1000 genomes]
rs73403324	1.00[AMR][1000 genomes]
rs7796885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
6	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
7	nsv888775	chr7:99940307-99961194	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99934000-99977600	Weak transcription	Fetal Brain Male	brain
2	chr7:99934200-99950800	Weak transcription	Small Intestine	intestine
3	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
4	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:99937600-99967800	Strong transcription	Fetal Stomach	stomach
8	chr7:99938600-99949000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:99938600-99967400	Strong transcription	Fetal Brain Female	brain
10	chr7:99938800-99962400	Strong transcription	Dnd41	blood
11	chr7:99939200-99949600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:99940800-100014600	Weak transcription	Right Atrium	heart
13	chr7:99942600-99960800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:99942800-99949600	Strong transcription	Hela-S3	cervix
15	chr7:99942800-99951000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr7:99942800-99963600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:99942800-99966400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:99942800-99966400	Strong transcription	A549	lung
19	chr7:99942800-99967000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:99942800-99967400	Strong transcription	Fetal Intestine Small	intestine
21	chr7:99943000-99957200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr7:99943200-99949400	Strong transcription	K562	blood
23	chr7:99943200-99962000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:99943200-99962600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:99943200-99965400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:99943400-99947600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:99943400-99948800	Strong transcription	NH-A	brain
28	chr7:99943400-99949000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr7:99943400-99949200	Strong transcription	HSMM	muscle
30	chr7:99943400-99952800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:99943400-99953800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr7:99943400-99953800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:99943400-99954400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:99943400-99955200	Strong transcription	Osteobl	bone
35	chr7:99943400-99960600	Strong transcription	Brain Angular Gyrus	brain
36	chr7:99943400-99961400	Strong transcription	Liver	Liver
37	chr7:99943400-99961600	Strong transcription	HepG2	liver
38	chr7:99943400-99962400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr7:99943400-99963200	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:99943400-99963200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:99943400-99966800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:99943400-99967200	Strong transcription	Fetal Intestine Large	intestine
43	chr7:99943600-99948000	Strong transcription	Colon Smooth Muscle	Colon
44	chr7:99943600-99948600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:99943600-99948600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:99943600-99948600	Strong transcription	Fetal Lung	lung
47	chr7:99943600-99949000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:99943600-99949400	Strong transcription	NHEK	skin
49	chr7:99943600-99949600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:99943600-99949600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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