Variant report

Variant	rs3807643
Chromosome Location	chr7:21509862-21509863
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	CEBPB	chr7:21509547-21509907	K562	blood:	n/a	n/a
2	CEBPB	chr7:21509624-21509938	K562	blood:	n/a	n/a
3	ARID3A	chr7:21509555-21509901	K562	blood:	n/a	n/a
4	CEBPB	chr7:21509648-21509954	MCF-7	breast:	n/a	n/a
5	JUND	chr7:21509502-21509953	K562	blood:	n/a	chr7:21509651-21509659 chr7:21509649-21509661
6	GATA3	chr7:21509560-21510032	MCF-7	breast:	n/a	n/a
7	CUX1	chr7:21509484-21510006	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:21502614..21504493-chr7:21507418..21509927,2	K562	blood:

Variant related genes	Relation type
MIR1183	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10250796	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17144480	0.93[AFR][1000 genomes]
rs17144483	0.80[AMR][1000 genomes]
rs17144497	0.83[AFR][1000 genomes]
rs7799715	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1023655	chr7:21486485-21727016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv538801	chr7:21486485-21727016	ZNF genes & repeats Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv830921	chr7:21489100-21688016	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21470400-21516600	Weak transcription	Liver	Liver
2	chr7:21470400-21536400	Weak transcription	Esophagus	oesophagus
3	chr7:21474800-21520600	Weak transcription	Brain Angular Gyrus	brain
4	chr7:21487400-21557000	Weak transcription	Aorta	Aorta
5	chr7:21491000-21526800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:21491000-21536400	Weak transcription	Left Ventricle	heart
7	chr7:21492200-21545200	Weak transcription	Small Intestine	intestine
8	chr7:21493000-21539000	Weak transcription	Spleen	Spleen
9	chr7:21493800-21529600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:21494400-21517400	Weak transcription	Fetal Kidney	kidney
11	chr7:21495200-21521600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:21495800-21516800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:21496000-21516600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr7:21496000-21519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:21496200-21517800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:21496600-21517600	Weak transcription	Dnd41	blood
17	chr7:21496600-21521600	Weak transcription	Adipose Nuclei	Adipose
18	chr7:21496800-21517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:21497200-21516200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:21497600-21520800	Weak transcription	HUVEC	blood vessel
21	chr7:21498000-21518800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:21498200-21532400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:21498600-21543600	Weak transcription	Pancreas	Pancrea
24	chr7:21498800-21511800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:21498800-21517200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:21499600-21516600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr7:21500000-21512600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr7:21500000-21530400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:21500000-21552800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:21500200-21516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:21500200-21520600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr7:21500200-21520800	Weak transcription	GM12878-XiMat	blood
33	chr7:21500400-21517400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr7:21500400-21529800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:21500600-21516400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:21500600-21516600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:21500600-21519000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:21501000-21516600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr7:21501000-21527400	Weak transcription	Fetal Stomach	stomach
40	chr7:21501200-21516600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr7:21501400-21520200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr7:21501400-21520600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr7:21501400-21528800	Weak transcription	Thymus	Thymus
44	chr7:21501400-21531000	Weak transcription	Fetal Intestine Large	intestine
45	chr7:21501600-21516600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:21502000-21516600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:21502000-21516800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr7:21502200-21521200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:21503200-21512400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:21503200-21532400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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