Variant report

Variant	rs57839487
Chromosome Location	chr7:16503443-16503444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16497028..16499550-chr7:16501413..16504859,5	K562	blood:
2	chr7:16497680..16499781-chr7:16501198..16505001,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28671496	1.00[AMR][1000 genomes]
rs58774802	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59406256	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61498161	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61540132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291283	1.00[AMR][1000 genomes]
rs73293213	1.00[AMR][1000 genomes]
rs73293598	1.00[AMR][1000 genomes]
rs73295204	1.00[AMR][1000 genomes]
rs73295214	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295216	1.00[AMR][1000 genomes]
rs73298620	1.00[AMR][1000 genomes]
rs73307921	1.00[AMR][1000 genomes]
rs73308339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308341	1.00[AMR][1000 genomes]
rs73308385	1.00[AFR][1000 genomes];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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv2759514	chr7:16236162-16527390	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758105	chr7:16272822-16527390	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv1034151	chr7:16415497-16578081	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16501000-16504800	Enhancers	Fetal Heart	heart
2	chr7:16501000-16505200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:16501000-16511600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:16501200-16505000	Weak transcription	Gastric	stomach
5	chr7:16501800-16503600	Weak transcription	Fetal Intestine Small	intestine
6	chr7:16502200-16506000	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr7:16502400-16503600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:16502400-16503800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:16502600-16503600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:16502600-16503600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:16502600-16503600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:16502600-16503600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:16502600-16503800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:16502600-16503800	Weak transcription	Esophagus	oesophagus
15	chr7:16502600-16504200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:16502600-16505000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:16502600-16505000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:16502600-16505000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:16502800-16503800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:16502800-16505000	Active TSS	Fetal Lung	lung
21	chr7:16502800-16506200	Active TSS	Fetal Stomach	stomach
22	chr7:16503000-16506000	Active TSS	Fetal Kidney	kidney
23	chr7:16503000-16506200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:16503200-16503800	Active TSS	Stomach Mucosa	stomach
25	chr7:16503200-16504000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:16503200-16505000	Active TSS	Fetal Brain Male	brain
27	chr7:16503200-16505600	Active TSS	K562	blood
28	chr7:16503200-16505800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr7:16503200-16506000	Active TSS	Fetal Intestine Large	intestine
30	chr7:16503200-16506000	Active TSS	Fetal Muscle Leg	muscle
31	chr7:16503200-16506000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:16503200-16506000	Active TSS	Right Atrium	heart
33	chr7:16503400-16503600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:16503400-16503600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:16503400-16503600	Enhancers	NHEK	skin
36	chr7:16503400-16504800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:16503400-16504800	Active TSS	HMEC	breast
38	chr7:16503400-16505000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:16503400-16505000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:16503400-16506000	Active TSS	Colon Smooth Muscle	Colon
41	chr7:16503400-16506000	Active TSS	Stomach Smooth Muscle	stomach

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