Variant report

Variant	rs6956777
Chromosome Location	chr7:127545202-127545203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127544913..127546736-chr7:127548351..127550204,2	K562	blood:
2	chr7:127545052..127549084-chr7:127551154..127554840,4	K562	blood:
3	chr7:127545052..127549084-chr7:127550970..127554840,5	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs55820323	1.00[AMR][1000 genomes]
rs56221924	1.00[AMR][1000 genomes]
rs56258700	1.00[AMR][1000 genomes]
rs56347144	1.00[AMR][1000 genomes]
rs56922858	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58102896	1.00[AMR][1000 genomes]
rs58659499	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60805384	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6951924	1.00[AMR][1000 genomes]
rs6956334	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6966554	1.00[AMR][1000 genomes]
rs6977011	1.00[AMR][1000 genomes]
rs73721004	1.00[AMR][1000 genomes]
rs73721005	1.00[AMR][1000 genomes]
rs73721006	1.00[AMR][1000 genomes]
rs73721007	1.00[AMR][1000 genomes]
rs73721008	1.00[AMR][1000 genomes]
rs73721009	1.00[AMR][1000 genomes]
rs73721011	1.00[AMR][1000 genomes]
rs73721012	1.00[AMR][1000 genomes]
rs73721015	1.00[AMR][1000 genomes]
rs73721017	1.00[AMR][1000 genomes]
rs73721018	1.00[AMR][1000 genomes]
rs73721019	1.00[AMR][1000 genomes]
rs73721020	1.00[AMR][1000 genomes]
rs73721021	1.00[AMR][1000 genomes]
rs73721023	1.00[AMR][1000 genomes]
rs73721024	1.00[AMR][1000 genomes]
rs73721025	1.00[AMR][1000 genomes]
rs73721026	1.00[AMR][1000 genomes]
rs73721028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721029	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721249	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721251	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721255	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721265	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721267	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721268	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721270	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721272	1.00[AMR][1000 genomes]
rs73721274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73721290	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
4	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
6	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
9	chr7:127532400-127547400	Weak transcription	A549	lung
10	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:127532800-127545600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:127538400-127545400	Weak transcription	HSMM	muscle
14	chr7:127538400-127546000	Weak transcription	NHLF	lung
15	chr7:127538800-127546200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:127539000-127545600	Weak transcription	NH-A	brain
17	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
18	chr7:127541000-127545600	Weak transcription	Aorta	Aorta
19	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
20	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
21	chr7:127541400-127545600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:127541400-127550800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr7:127541600-127545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:127541600-127545600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:127541600-127545600	Weak transcription	Lung	lung
26	chr7:127541600-127545800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:127541800-127546000	Weak transcription	Small Intestine	intestine
28	chr7:127542200-127545400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:127542400-127545400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr7:127542600-127545400	Weak transcription	Liver	Liver
31	chr7:127542600-127545600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:127542600-127545600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:127542600-127545600	Weak transcription	Stomach Mucosa	stomach
34	chr7:127542600-127545800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr7:127542600-127546200	Weak transcription	Adipose Nuclei	Adipose
36	chr7:127542600-127546600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr7:127542600-127547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:127542600-127547400	Weak transcription	Fetal Kidney	kidney
39	chr7:127542600-127553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr7:127542600-127553000	Weak transcription	Ovary	ovary
41	chr7:127542600-127553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:127542800-127545400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:127542800-127552800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:127542800-127554200	Weak transcription	Gastric	stomach
45	chr7:127543400-127545400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr7:127543400-127546000	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr7:127543400-127549200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:127543600-127545600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr7:127543600-127545800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:127543600-127546000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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