Variant report

Variant	rs56845845
Chromosome Location	chr7:99042646-99042647
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	chr7:99042379-99042875	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99035601..99038053-chr7:99042124..99044102,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228335	TF binding region
ENSG00000160917	Chromatin interaction
ENSG00000106246	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55645332	1.00[AMR][1000 genomes]
rs55668841	1.00[AMR][1000 genomes]
rs55942015	1.00[AMR][1000 genomes]
rs55963144	1.00[AMR][1000 genomes]
rs56072000	1.00[AMR][1000 genomes]
rs56144997	1.00[AMR][1000 genomes]
rs56145748	1.00[AMR][1000 genomes]
rs56992635	1.00[AMR][1000 genomes]
rs57467259	1.00[AMR][1000 genomes]
rs57482580	1.00[AMR][1000 genomes]
rs59346440	1.00[AMR][1000 genomes]
rs60206309	1.00[AMR][1000 genomes]
rs60466806	1.00[AMR][1000 genomes]
rs61085247	1.00[AMR][1000 genomes]
rs61283116	1.00[AMR][1000 genomes]
rs73709647	1.00[AMR][1000 genomes]
rs73709648	1.00[AMR][1000 genomes]
rs73710443	1.00[AMR][1000 genomes]
rs73710452	1.00[AMR][1000 genomes]
rs73710453	1.00[AMR][1000 genomes]
rs73711210	1.00[AMR][1000 genomes]
rs73711213	1.00[AMR][1000 genomes]
rs73711216	1.00[AMR][1000 genomes]
rs73711218	1.00[AMR][1000 genomes]
rs73711277	1.00[AMR][1000 genomes]
rs73711278	1.00[AMR][1000 genomes]
rs73711284	1.00[AMR][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]

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	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
3	nsv888767	chr7:99017832-99050039	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv888768	chr7:99017832-99052428	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99037800-99046200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:99038000-99045600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:99038000-99054600	Weak transcription	Stomach Mucosa	stomach
4	chr7:99038000-99061600	Strong transcription	Fetal Stomach	stomach
5	chr7:99038200-99043400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:99038200-99043600	Weak transcription	Fetal Brain Male	brain
7	chr7:99038200-99045600	Weak transcription	Psoas Muscle	Psoas
8	chr7:99038200-99056200	Weak transcription	Fetal Heart	heart
9	chr7:99038200-99061800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr7:99038200-99061800	Strong transcription	Fetal Intestine Small	intestine
11	chr7:99038200-99062000	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:99038200-99062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:99038200-99062400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:99038400-99062400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:99038600-99058000	Strong transcription	NHEK	skin
16	chr7:99038600-99058600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:99038600-99062400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:99038800-99043600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:99038800-99047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:99038800-99058000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:99039000-99055000	Strong transcription	Placenta	Placenta
22	chr7:99039000-99059000	Strong transcription	Fetal Intestine Large	intestine
23	chr7:99039200-99045600	Weak transcription	Colonic Mucosa	Colon
24	chr7:99039200-99049200	Strong transcription	Hela-S3	cervix
25	chr7:99039200-99054000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:99039200-99058000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:99039200-99058000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr7:99039200-99058200	Strong transcription	Dnd41	blood
29	chr7:99039200-99061600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr7:99039400-99059600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:99039600-99058000	Strong transcription	HMEC	breast
32	chr7:99039600-99062000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:99039800-99054400	Weak transcription	Right Atrium	heart
34	chr7:99040000-99047200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr7:99040000-99058400	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:99040000-99058600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:99040000-99059000	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr7:99040000-99060600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:99040200-99049600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:99040200-99058200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:99040200-99059400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:99040200-99059400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:99040400-99044000	Strong transcription	HSMM	muscle
44	chr7:99040400-99044400	Strong transcription	Left Ventricle	heart
45	chr7:99040400-99044400	Strong transcription	Thymus	Thymus
46	chr7:99040400-99046400	Strong transcription	NH-A	brain
47	chr7:99040400-99047400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:99040400-99047800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr7:99040400-99049400	Strong transcription	Fetal Muscle Leg	muscle
50	chr7:99040400-99058200	Strong transcription	Primary T cells fromperipheralblood	blood

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