Variant report

Variant	rs55818034
Chromosome Location	chr7:101447626-101447627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101446075..101448443-chr7:101452327..101453917,2	K562	blood:
2	chr7:101446704..101449340-chr7:101499387..101502375,2	K562	blood:
3	chr7:101446447..101448441-chr7:101533510..101536360,2	MCF-7	breast:
4	chr7:101386153..101388465-chr7:101446824..101448422,2	MCF-7	breast:
5	chr7:101437526..101440665-chr7:101445338..101450249,4	K562	blood:
6	chr7:101434891..101437253-chr7:101447491..101449086,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11974028	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56343746	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57249325	1.00[ASN][1000 genomes]
rs62463713	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101436800-101457400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:101444800-101448200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:101446400-101448000	Bivalent Enhancer	Fetal Intestine Small	intestine
4	chr7:101446400-101448400	Enhancers	Placenta	Placenta
5	chr7:101446400-101449400	Bivalent Enhancer	Fetal Intestine Large	intestine
6	chr7:101446600-101448600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr7:101446800-101447800	Enhancers	Hela-S3	cervix
8	chr7:101446800-101447800	Bivalent Enhancer	HepG2	liver
9	chr7:101446800-101448400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr7:101446800-101448800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr7:101446800-101448800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr7:101447000-101447800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr7:101447000-101447800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:101447000-101447800	Flanking Active TSS	Fetal Thymus	thymus
15	chr7:101447000-101448000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr7:101447000-101448000	Bivalent Enhancer	Fetal Lung	lung
17	chr7:101447000-101448200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr7:101447000-101448200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:101447000-101448200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr7:101447000-101448400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:101447000-101448600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:101447000-101448600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
23	chr7:101447000-101448800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:101447200-101447800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:101447200-101447800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr7:101447200-101447800	Bivalent Enhancer	Brain Hippocampus Middle	brain
27	chr7:101447200-101448000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:101447200-101448000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:101447200-101448000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:101447200-101448000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr7:101447200-101448000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr7:101447200-101448200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:101447200-101448200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:101447200-101448200	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:101447200-101448200	Bivalent Enhancer	Fetal Heart	heart
36	chr7:101447200-101448200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr7:101447200-101448400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr7:101447200-101448400	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr7:101447200-101448400	Enhancers	HMEC	breast
40	chr7:101447200-101448800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr7:101447200-101448800	Bivalent Enhancer	Stomach Mucosa	stomach
42	chr7:101447400-101447800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:101447400-101447800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr7:101447400-101447800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:101447400-101447800	Active TSS	Thymus	Thymus
46	chr7:101447400-101448000	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr7:101447400-101448000	Bivalent Enhancer	HSMMtube	muscle
48	chr7:101447400-101448200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr7:101447400-101448200	Flanking Bivalent TSS/Enh	NHEK	skin
50	chr7:101447400-101448400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell

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