Variant report

Variant	rs73338039
Chromosome Location	chr7:5678419-5678420
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	chr7:5673316..5675722-chr7:5676107..5679530,3	K562	blood:
2	chr7:5630981..5635374-chr7:5673788..5678514,7	K562	blood:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56984603	1.00[AMR][1000 genomes]
rs57926060	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58090944	1.00[AMR][1000 genomes]
rs58158005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58464539	1.00[AMR][1000 genomes]
rs60300172	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6972718	1.00[AMR][1000 genomes]
rs73334470	1.00[AMR][1000 genomes]
rs73334479	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336207	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336224	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336227	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73336234	1.00[AMR][1000 genomes]
rs73336241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338064	0.94[AFR][1000 genomes]
rs73673169	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
5	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
6	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
7	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
8	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
9	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
10	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
11	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
12	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
13	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
16	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
18	nsv887418	chr7:5675305-5772551	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5671800-5682800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:5672000-5681200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:5673200-5681000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:5673800-5681800	Strong transcription	Primary T cells from cord blood	blood
6	chr7:5674000-5678800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr7:5674000-5679200	Enhancers	HMEC	breast
8	chr7:5674200-5681200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:5674400-5681400	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:5674600-5681000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:5674600-5688800	Weak transcription	Aorta	Aorta
12	chr7:5674800-5681200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr7:5674800-5681400	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr7:5674800-5683000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:5674800-5693600	Strong transcription	Dnd41	blood
16	chr7:5674800-5728200	Weak transcription	Small Intestine	intestine
17	chr7:5675000-5681000	Strong transcription	Primary B cells from cord blood	blood
18	chr7:5675000-5688000	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:5675200-5681400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr7:5675400-5681400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr7:5675400-5683000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:5675400-5684200	Strong transcription	Fetal Intestine Large	intestine
23	chr7:5675400-5689400	Weak transcription	Psoas Muscle	Psoas
24	chr7:5675600-5678600	Weak transcription	Fetal Heart	heart
25	chr7:5675800-5682200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:5676000-5681000	Strong transcription	GM12878-XiMat	blood
27	chr7:5676000-5693800	Strong transcription	Fetal Intestine Small	intestine
28	chr7:5676200-5681200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:5676200-5689000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:5676800-5681000	Strong transcription	Thymus	Thymus
31	chr7:5677000-5679200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:5677000-5689200	Weak transcription	Ovary	ovary
33	chr7:5677000-5693400	Weak transcription	Right Atrium	heart
34	chr7:5677000-5701400	Weak transcription	Fetal Brain Male	brain
35	chr7:5677200-5678600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:5677200-5678600	Weak transcription	Brain Germinal Matrix	brain
37	chr7:5677200-5679000	Strong transcription	Fetal Lung	lung
38	chr7:5677200-5679200	Genic enhancers	Placenta	Placenta
39	chr7:5677200-5679400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:5677200-5680400	Strong transcription	Esophagus	oesophagus
41	chr7:5677200-5680400	Strong transcription	Fetal Brain Female	brain
42	chr7:5677200-5683200	Strong transcription	A549	lung
43	chr7:5677200-5689000	Weak transcription	Fetal Kidney	kidney
44	chr7:5677200-5689200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr7:5677200-5690600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr7:5677200-5707200	Weak transcription	Stomach Mucosa	stomach
47	chr7:5677400-5678600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:5677400-5678600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:5677400-5678600	Weak transcription	Adipose Nuclei	Adipose
50	chr7:5677400-5678600	Weak transcription	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links