Variant report

Variant	rs28517771
Chromosome Location	chr7:140372378-140372379
allele	A/C
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	TBP	chr7:140372086-140372555	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAZ	chr7:140372359-140373651	GM12878	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
3	MAZ	chr7:140372063-140373834	K562	blood:	n/a	chr7:140372802-140372812 chr7:140372990-140373000
4	YY1	chr7:140372365-140372635	H1-hESC	embryonic stem cell:	n/a	chr7:140372490-140372502
5	MAZ	chr7:140372170-140373981	IMR90	lung:	n/a	chr7:140372802-140372812 chr7:140372990-140373000

No.	Distal block	Cell Line	Cell type
1	chr7:140370608..140383131-chr7:140387718..140398587,28	MCF-7	breast:
2	chr7:140371506..140376729-chr7:140377280..140380130,6	K562	blood:
3	chr7:140371233..140372859-chr7:140417535..140420248,2	MCF-7	breast:
4	chr7:140371560..140374067-chr7:140396511..140398663,2	K562	blood:
5	chr7:140371193..140374993-chr7:140376654..140380151,6	MCF-7	breast:
6	chr7:140358444..140360553-chr7:140370671..140372780,2	MCF-7	breast:
7	chr7:140366280..140367939-chr7:140371289..140372844,2	MCF-7	breast:
8	chr7:140370275..140375389-chr7:140393210..140401279,16	MCF-7	breast:

Variant related genes	Relation type
ADCK2	TF binding region
ENSG00000090266	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000240889	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10241711	0.88[ASN][1000 genomes]
rs10260676	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1046515	0.88[ASN][1000 genomes]
rs1140034	0.90[ASN][1000 genomes]
rs12375245	0.90[ASN][1000 genomes]
rs17161666	0.85[ASN][1000 genomes]
rs17161668	0.90[ASN][1000 genomes]
rs2364393	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2364394	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2364395	0.90[ASN][1000 genomes]
rs2930315	0.85[ASN][1000 genomes]
rs2930318	0.85[ASN][1000 genomes]
rs2930319	0.85[ASN][1000 genomes]
rs2930331	0.84[ASN][1000 genomes]
rs2968551	0.83[ASN][1000 genomes]
rs2968553	0.85[ASN][1000 genomes]
rs2968555	0.87[ASN][1000 genomes]
rs2968558	0.90[ASN][1000 genomes]
rs2968559	0.90[ASN][1000 genomes]
rs4624945	0.90[ASN][1000 genomes]
rs4725799	0.90[ASN][1000 genomes]
rs4727011	0.90[ASN][1000 genomes]
rs4727021	0.90[ASN][1000 genomes]
rs4727036	0.90[ASN][1000 genomes]
rs4727040	0.88[ASN][1000 genomes]
rs4727041	0.88[ASN][1000 genomes]
rs4727053	0.85[ASN][1000 genomes]
rs6464937	0.90[ASN][1000 genomes]
rs6969779	0.85[ASN][1000 genomes]
rs73491672	0.88[ASN][1000 genomes]
rs73505645	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73505647	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7792746	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7794857	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7809339	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][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	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv3373922	chr7:140371933-140374031	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140371000-140372400	Weak transcription	NHLF	lung
2	chr7:140371600-140372400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:140371800-140372400	Enhancers	Fetal Heart	heart
4	chr7:140371800-140372400	Weak transcription	Ovary	ovary
5	chr7:140371800-140372400	Enhancers	Pancreas	Pancrea
6	chr7:140371800-140372400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:140371800-140372400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr7:140371800-140372400	Enhancers	Stomach Mucosa	stomach
9	chr7:140372000-140372400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:140372000-140372400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:140372000-140372400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:140372000-140372400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr7:140372000-140372400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr7:140372000-140372400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:140372000-140372400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr7:140372000-140372400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr7:140372000-140372400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
18	chr7:140372000-140372400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:140372000-140372400	Enhancers	Primary B cells from peripheral blood	blood
20	chr7:140372000-140372400	Enhancers	Primary T cells from cord blood	blood
21	chr7:140372000-140372400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr7:140372000-140372400	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:140372000-140372400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr7:140372000-140372400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:140372000-140372400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:140372000-140372400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:140372000-140372400	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr7:140372000-140372400	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr7:140372000-140372400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr7:140372000-140372400	Enhancers	Fetal Intestine Large	intestine
31	chr7:140372000-140372400	Enhancers	Fetal Intestine Small	intestine
32	chr7:140372000-140372400	Enhancers	Fetal Thymus	thymus
33	chr7:140372000-140372400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr7:140372000-140372400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr7:140372000-140372400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr7:140372000-140372400	Enhancers	Small Intestine	intestine
37	chr7:140372000-140372400	Flanking Active TSS	A549	lung
38	chr7:140372000-140372400	Enhancers	HMEC	breast
39	chr7:140372000-140372400	Enhancers	NHEK	skin
40	chr7:140372000-140372400	Enhancers	Osteobl	bone
41	chr7:140372000-140372600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:140372000-140372600	Flanking Active TSS	Fetal Kidney	kidney
43	chr7:140372000-140372600	Flanking Active TSS	Hela-S3	cervix
44	chr7:140372000-140372600	Flanking Active TSS	K562	blood
45	chr7:140372000-140372800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:140372000-140372800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:140372000-140373000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr7:140372000-140373200	Active TSS	Brain Hippocampus Middle	brain
49	chr7:140372000-140373400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:140372200-140372400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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