Variant report

Variant	rs6958539
Chromosome Location	chr7:38420878-38420879
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38418097..38421042-chr7:38432783..38435620,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11978903	1.00[AMR][1000 genomes]
rs56905382	1.00[AMR][1000 genomes]
rs57861366	0.94[AFR][1000 genomes]
rs58000336	1.00[AMR][1000 genomes]
rs59000305	0.94[AFR][1000 genomes]
rs59548685	1.00[AMR][1000 genomes]
rs73348814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348823	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348834	1.00[AMR][1000 genomes]
rs73348845	1.00[AMR][1000 genomes]
rs73348855	1.00[AMR][1000 genomes]
rs73348860	1.00[AMR][1000 genomes]
rs73348864	1.00[AMR][1000 genomes]
rs73348869	1.00[AMR][1000 genomes]
rs73348871	1.00[AMR][1000 genomes]
rs73348876	1.00[AMR][1000 genomes]
rs73348897	1.00[AMR][1000 genomes]
rs73350792	1.00[AMR][1000 genomes]
rs73352603	1.00[AMR][1000 genomes]
rs73356685	1.00[AMR][1000 genomes]
rs7784259	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758112	chr7:38218703-38523455	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv2759524	chr7:38218703-38523455	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv427776	chr7:38218703-38523455	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1025974	chr7:38227528-38503472	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv538819	chr7:38227528-38503472	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv932229	chr7:38248340-38727527	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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	41 gene(s)	inside rSNPs	diseases
7	nsv1020990	chr7:38257707-38503472	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv1019941	chr7:38319437-38472680	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh 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	31 gene(s)	inside rSNPs	diseases
9	nsv1031936	chr7:38319437-38503472	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv429745	chr7:38323485-38470561	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv830965	chr7:38350614-38521047	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv830966	chr7:38393663-38602553	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38409600-38423600	Weak transcription	Fetal Kidney	kidney
2	chr7:38409800-38421200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:38409800-38438600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr7:38410000-38421800	Weak transcription	Fetal Intestine Small	intestine
5	chr7:38410000-38432800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr7:38410200-38424400	Weak transcription	Fetal Intestine Large	intestine
7	chr7:38410800-38422000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:38411200-38423200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:38412200-38422600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:38413000-38428000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:38413200-38428400	Weak transcription	Spleen	Spleen
12	chr7:38413400-38421200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr7:38413400-38422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:38414400-38438600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:38415400-38422000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:38416000-38421200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:38417200-38422400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:38418000-38421000	Weak transcription	K562	blood
19	chr7:38418600-38421600	Strong transcription	Primary T cells from cord blood	blood
20	chr7:38418600-38421600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr7:38419400-38423000	Weak transcription	Fetal Stomach	stomach
22	chr7:38419800-38422200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:38420200-38422400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:38420400-38422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:38420600-38433600	Weak transcription	Fetal Thymus	thymus
26	chr7:38420800-38421000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr7:38420800-38424400	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr7:38420800-38425200	Weak transcription	Dnd41	blood

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