Variant report

Variant	rs56115408
Chromosome Location	chr8:67999025-67999026
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67990677..67996100-chr8:67997550..68001970,5	K562	blood:
2	chr8:67997747..68001730-chr8:68001894..68004625,4	K562	blood:
3	chr8:67990308..67993966-chr8:67998315..68001185,4	K562	blood:

Variant related genes	Relation type
ENSG00000121022	Chromatin interaction
ENSG00000104218	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1138476	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11985037	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988175	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11989855	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11990088	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992626	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995853	0.81[EUR][1000 genomes]
rs11997189	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466283	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16933071	0.84[EUR][1000 genomes]
rs16933148	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933178	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377622	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55783506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55908039	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55993413	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs56070137	0.84[EUR][1000 genomes]
rs56717011	0.84[EUR][1000 genomes]
rs56902031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57530222	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57931195	0.84[EUR][1000 genomes]
rs58160220	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58307420	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59061775	0.83[EUR][1000 genomes]
rs60167783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60624770	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60964596	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61476700	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61552467	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7004549	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7009678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691159	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73691161	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691183	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73691194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693114	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693117	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73693129	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73693136	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73693148	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73693149	0.84[EUR][1000 genomes]
rs73693150	0.84[EUR][1000 genomes]
rs73693151	0.84[EUR][1000 genomes]
rs7816746	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7831052	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016742	chr8:67917418-68125319	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv539639	chr8:67917418-68125319	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv890975	chr8:67983796-68032058	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611458	chr8:67986890-68016482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv611459	chr8:67995266-68015219	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1795021	chr8:67995266-68068812	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv1846804	chr8:67995266-68074422	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv1802127	chr8:67995266-68076723	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67977800-68009200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:67977800-68010000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:67977800-68013800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr8:67977800-68021800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:67977800-68044000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:67978000-68012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:67978200-68006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:67978200-68012600	Weak transcription	HUVEC	blood vessel
9	chr8:67978200-68074400	Weak transcription	Esophagus	oesophagus
10	chr8:67978400-68044800	Weak transcription	Brain Angular Gyrus	brain
11	chr8:67978400-68045600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:67978600-68007000	Weak transcription	Brain Substantia Nigra	brain
13	chr8:67978600-68008000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:67978600-68031200	Weak transcription	Fetal Heart	heart
15	chr8:67978600-68074200	Weak transcription	Psoas Muscle	Psoas
16	chr8:67978800-68044200	Weak transcription	Colon Smooth Muscle	Colon
17	chr8:67979400-68013200	Weak transcription	Pancreas	Pancrea
18	chr8:67984200-68009200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:67986400-68045400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:67988000-68004800	Weak transcription	Thymus	Thymus
21	chr8:67988200-68007000	Weak transcription	Fetal Brain Male	brain
22	chr8:67988200-68007000	Weak transcription	Fetal Kidney	kidney
23	chr8:67988200-68014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:67988200-68038800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:67988200-68074800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr8:67988400-68002800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:67988400-68035000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:67990400-68074400	Weak transcription	Spleen	Spleen
29	chr8:67990800-68009600	Weak transcription	Small Intestine	intestine
30	chr8:67991000-68021400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:67991200-68011400	Weak transcription	Fetal Intestine Small	intestine
32	chr8:67991200-68035000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr8:67991600-68007800	Weak transcription	Right Ventricle	heart
34	chr8:67991800-68003000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:67991800-68006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:67991800-68036800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:67992000-67999400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:67992000-67999600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:67992200-68002600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:67993200-67999600	Weak transcription	Fetal Brain Female	brain
41	chr8:67993200-68000000	Weak transcription	Fetal Thymus	thymus
42	chr8:67993200-68002400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:67993200-68003000	Weak transcription	Hela-S3	cervix
44	chr8:67993200-68007000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:67993200-68007600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:67993200-68008200	Weak transcription	HepG2	liver
47	chr8:67993200-68044200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:67993400-67999200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:67993400-67999200	Weak transcription	HMEC	breast
50	chr8:67993400-67999400	Weak transcription	Adipose Nuclei	Adipose

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