Variant report

Variant	rs73399595
Chromosome Location	chr7:99940129-99940130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99939797-99940243	K562	blood:	n/a	n/a
2	POLR2A	chr7:99940010-99940517	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:99939958-99940845	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:99939948-99940613	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:99937920-99940840	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:99939948-99940845	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:99940095-99940821	GM12891	blood:	n/a	n/a
8	POLR2A	chr7:99939887-99940883	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:99939995-99940874	GM12891	blood:	n/a	n/a
10	POLR2A	chr7:99938831-99940840	Hela-S3	cervix:	n/a	n/a
11	FOSL2	chr7:99940088-99940452	HepG2	liver:	n/a	chr7:99940280-99940288
12	POLR2A	chr7:99940057-99940742	PANC-1	pancreas:	n/a	n/a
13	HEY1	chr7:99939814-99940858	K562	blood:	n/a	n/a
14	POLR2A	chr7:99939903-99940228	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99935191..99937909-chr7:99939169..99942843,3	K562	blood:
2	chr7:99932234..99937909-chr7:99939373..99942446,6	K562	blood:
3	chr7:99931911..99935442-chr7:99938364..99941933,5	MCF-7	breast:
4	chr7:99939167..99940736-chr7:100025324..100028004,2	K562	blood:

No data

Variant related genes	Relation type
PMS2P1	TF binding region
ENSG00000146834	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000272752	Chromatin interaction
ENSG00000121716	Chromatin interaction
ENSG00000242294	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1059126	0.97[AFR][1000 genomes]
rs59251177	0.97[AFR][1000 genomes]
rs6968343	0.97[AFR][1000 genomes]
rs73399601	1.00[AFR][1000 genomes]
rs73401410	0.96[AFR][1000 genomes]
rs73401452	0.87[AFR][1000 genomes]
rs7796885	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	esv1830570	chr7:99901968-99945827	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	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

No data

Chromatin state (count:125 , 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	chr7:99934200-99940200	Weak transcription	Esophagus	oesophagus
3	chr7:99934200-99940400	Weak transcription	Brain Anterior Caudate	brain
4	chr7:99934200-99941600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:99934200-99941600	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:99934200-99941800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:99934200-99941800	Weak transcription	Gastric	stomach
8	chr7:99934200-99942200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:99934200-99942400	Weak transcription	Fetal Lung	lung
10	chr7:99934200-99943600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:99934200-99943600	Weak transcription	HSMMtube	muscle
12	chr7:99934200-99944000	Weak transcription	Fetal Kidney	kidney
13	chr7:99934200-99950800	Weak transcription	Small Intestine	intestine
14	chr7:99934400-99940400	Weak transcription	Osteobl	bone
15	chr7:99934400-99941800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr7:99934400-99941800	Weak transcription	Pancreas	Pancrea
17	chr7:99934400-99942400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:99934400-99943800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:99934400-99944000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:99934400-99944200	Weak transcription	Colonic Mucosa	Colon
21	chr7:99934400-99944200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:99934400-99944200	Weak transcription	Ovary	ovary
23	chr7:99934400-99963400	Weak transcription	Psoas Muscle	Psoas
24	chr7:99934800-99940400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:99934800-99941800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr7:99934800-99944800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:99934800-99963800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:99935200-99940800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr7:99935200-99941400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:99935400-99940400	Weak transcription	HSMM	muscle
31	chr7:99935400-99941800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:99935400-99941800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr7:99935400-99942200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:99935400-99942400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:99935400-99942400	Strong transcription	Fetal Intestine Small	intestine
36	chr7:99935400-99942400	Weak transcription	NHLF	lung
37	chr7:99935400-99944000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:99935400-99944200	Weak transcription	Brain Germinal Matrix	brain
39	chr7:99935400-99962200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:99935400-99962400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:99935600-99940200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr7:99935600-99940800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:99935600-99940800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:99935600-99942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:99935800-99940800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr7:99935800-99941000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr7:99935800-99941800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr7:99936000-99941400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:99936000-99941800	Weak transcription	Brain Substantia Nigra	brain
50	chr7:99936200-99940800	Strong transcription	Primary T helper cells fromperipheralblood	blood

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