Variant report

Variant	rs73397427
Chromosome Location	chr7:99000930-99000931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:99000792..99002474-chr7:99063738..99066262,2	K562	blood:
2	chr7:98971053..98973782-chr7:99000134..99003212,3	MCF-7	breast:
3	chr7:98995708..98998425-chr7:98998981..99002328,3	MCF-7	breast:
4	chr7:99000152..99002046-chr7:99035155..99037970,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160917	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000130429	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs61743632	1.00[AMR][1000 genomes]
rs73395582	1.00[AMR][1000 genomes]
rs73395595	1.00[AMR][1000 genomes]
rs73397451	1.00[AMR][1000 genomes]
rs73397501	1.00[AMR][1000 genomes]
rs73403243	1.00[AMR][1000 genomes]
rs73403257	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98979400-99001800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:98980400-99003800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:98985600-99003800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:98987000-99004200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:98990000-99002800	Strong transcription	GM12878-XiMat	blood
6	chr7:98991000-99001600	Strong transcription	Muscle Satellite Cultured Cells	--
7	chr7:98991000-99001600	Strong transcription	Osteobl	bone
8	chr7:98991000-99002000	Strong transcription	NHEK	skin
9	chr7:98991000-99002600	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr7:98991000-99002600	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:98991400-99001800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:98991400-99001800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:98991400-99001800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:98991400-99002400	Strong transcription	Esophagus	oesophagus
15	chr7:98991400-99002400	Weak transcription	Right Atrium	heart
16	chr7:98991400-99004200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:98991600-99001400	Strong transcription	Placenta	Placenta
18	chr7:98991600-99001600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:98991600-99001800	Strong transcription	NHLF	lung
20	chr7:98991600-99002000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:98991600-99002000	Strong transcription	Adipose Nuclei	Adipose
22	chr7:98991600-99002400	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr7:98991600-99002800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:98991600-99003000	Strong transcription	Primary T cells from cord blood	blood
25	chr7:98991600-99003000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:98991600-99003400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:98991600-99003400	Weak transcription	Stomach Mucosa	stomach
28	chr7:98991600-99003400	Strong transcription	K562	blood
29	chr7:98991600-99005200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr7:98991800-99001400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:98991800-99001400	Strong transcription	Spleen	Spleen
32	chr7:98991800-99001800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:98991800-99002000	Strong transcription	Gastric	stomach
34	chr7:98991800-99002800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:98991800-99002800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:98991800-99003000	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:98991800-99003000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:98991800-99003000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr7:98991800-99003400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr7:98991800-99003400	Strong transcription	Fetal Intestine Small	intestine
41	chr7:98991800-99003600	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:98991800-99003600	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:98991800-99003600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr7:98991800-99003800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:98992000-99001400	Strong transcription	HSMMtube	muscle
46	chr7:98992000-99002200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:98992000-99002400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:98992000-99002600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:98992000-99002800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr7:98992000-99002800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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