Variant report

Variant	rs73711284
Chromosome Location	chr7:99058103-99058104
allele	A/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	POLR2A	chr7:99058032-99058612	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:99051449-99058597	K562	blood:	n/a	n/a
3	POLR2A	chr7:99058087-99058701	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:99058053-99058237	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:99058082-99059484	K562	blood:	n/a	n/a
6	POLR2A	chr7:99057824-99059157	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr7:99057514-99059285	K562	blood:	n/a	n/a
8	POLR2A	chr7:99057947-99058408	A549	lung:	n/a	n/a
9	POLR2A	chr7:99057918-99058818	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:99057694-99059068	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99057427..99060113-chr7:99097887..99100636,2	K562	blood:
2	chr7:99055033..99067556-chr7:99095016..99105645,21	K562	blood:

Variant related genes	Relation type
ATP5J2	TF binding region
ENSG00000160908	Chromatin interaction
ENSG00000196652	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs55645332	1.00[AMR][1000 genomes]
rs55668841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55942015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55963144	1.00[AMR][1000 genomes]
rs56072000	1.00[AMR][1000 genomes]
rs56104955	1.00[AFR][1000 genomes]
rs56144997	1.00[AMR][1000 genomes]
rs56145748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56845845	1.00[AMR][1000 genomes]
rs56992635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57467259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482580	1.00[AMR][1000 genomes]
rs58586429	1.00[AFR][1000 genomes]
rs59346440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60206309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60466806	1.00[AMR][1000 genomes]
rs61085247	1.00[AMR][1000 genomes]
rs61283116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73709647	1.00[AMR][1000 genomes]
rs73709648	1.00[AMR][1000 genomes]
rs73710443	1.00[AMR][1000 genomes]
rs73710445	0.86[AFR][1000 genomes]
rs73710452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73710453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711278	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73711289	1.00[AFR][1000 genomes]
rs73711292	1.00[AMR][1000 genomes]
rs73711299	1.00[AMR][1000 genomes]
rs73711300	1.00[AMR][1000 genomes]
rs73713503	1.00[AMR][1000 genomes]
rs73713504	1.00[AMR][1000 genomes]
rs73713510	1.00[AFR][1000 genomes]
rs73713518	0.86[AFR][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
2	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
4	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:99038600-99058600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99039000-99059000	Strong transcription	Fetal Intestine Large	intestine
11	chr7:99039200-99058200	Strong transcription	Dnd41	blood
12	chr7:99039200-99061600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:99039400-99059600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:99039600-99062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:99040000-99058400	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:99040000-99058600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:99040000-99059000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:99040000-99060600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:99040200-99058200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:99040200-99059400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:99040200-99059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:99040400-99058200	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr7:99040400-99058400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:99040400-99058400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:99040400-99058600	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr7:99040400-99058600	Strong transcription	Fetal Lung	lung
27	chr7:99040400-99059000	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr7:99040400-99059600	Strong transcription	Primary T cells from cord blood	blood
29	chr7:99040400-99060800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr7:99040400-99062000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr7:99040600-99058400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:99040800-99062000	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr7:99041000-99058400	Strong transcription	Liver	Liver
34	chr7:99041000-99058600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:99041000-99058600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr7:99041200-99058600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:99041400-99058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:99042000-99058400	Strong transcription	Fetal Thymus	thymus
39	chr7:99042200-99059200	Strong transcription	GM12878-XiMat	blood
40	chr7:99042400-99058200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:99042400-99059000	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr7:99044000-99058200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:99044200-99060400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:99045200-99058200	Strong transcription	Lung	lung
45	chr7:99045200-99058200	Strong transcription	K562	blood
46	chr7:99045200-99058400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:99045200-99058400	Strong transcription	Primary B cells from peripheral blood	blood
48	chr7:99045200-99058600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr7:99045200-99058600	Strong transcription	Thymus	Thymus
50	chr7:99045200-99058600	Strong transcription	NHLF	lung

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