Variant report

Variant	rs34688920
Chromosome Location	chr7:127533338-127533339
allele	CA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127531585..127534377-chr7:127536211..127537783,2	K562	blood:
2	chr7:127297952..127300246-chr7:127531655..127534465,2	K562	blood:
3	chr7:127524140..127526463-chr7:127531972..127534271,2	MCF-7	breast:
4	chr7:127531050..127533876-chr7:127535094..127537920,2	MCF-7	breast:
5	chr7:127530901..127533766-chr7:127540275..127542321,2	K562	blood:
6	chr7:127532785..127535479-chr7:127547850..127550126,2	K562	blood:
7	chr7:127525921..127529073-chr7:127530950..127533374,6	K562	blood:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10487499	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	1.00[ASN][1000 genomes]
rs12154492	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12155421	1.00[ASN][1000 genomes]
rs12375023	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	1.00[ASN][1000 genomes]
rs12534918	1.00[ASN][1000 genomes]
rs12540357	1.00[ASN][1000 genomes]
rs12706816	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12706820	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	1.00[ASN][1000 genomes]
rs13227201	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348103	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362898	1.00[ASN][1000 genomes]
rs1419970	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.85[EUR][1000 genomes]
rs17151466	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151653	1.00[ASN][1000 genomes]
rs17151668	1.00[ASN][1000 genomes]
rs17151682	1.00[ASN][1000 genomes]
rs17676654	1.00[ASN][1000 genomes]
rs34026100	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	1.00[ASN][1000 genomes]
rs35154268	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660964	1.00[ASN][1000 genomes]
rs55660321	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58489175	1.00[ASN][1000 genomes]
rs6467157	1.00[ASN][1000 genomes]
rs67632185	1.00[ASN][1000 genomes]
rs67827668	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	1.00[ASN][1000 genomes]
rs6953231	1.00[ASN][1000 genomes]
rs6959487	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232968	1.00[ASN][1000 genomes]
rs73232972	1.00[ASN][1000 genomes]
rs73234874	1.00[ASN][1000 genomes]
rs73238078	1.00[ASN][1000 genomes]
rs741094	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.85[EUR][1000 genomes]
rs7785596	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7805021	1.00[ASN][1000 genomes]
rs7809182	0.85[EUR][1000 genomes]
rs7810024	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894062	1.00[ASN][1000 genomes]
rs9649027	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127500200-127535400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:127505400-127537800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127505800-127539600	Weak transcription	Small Intestine	intestine
4	chr7:127505800-127542000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127515400-127540600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:127516400-127540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:127524800-127538400	Weak transcription	Psoas Muscle	Psoas
8	chr7:127524800-127540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127525200-127536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:127526000-127535600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr7:127526200-127544600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:127526400-127538000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:127526600-127535400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:127526600-127540600	Weak transcription	Fetal Brain Female	brain
15	chr7:127526600-127540600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:127526800-127535400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr7:127526800-127539600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:127527200-127540400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:127527400-127533600	Strong transcription	Primary T cells from cord blood	blood
20	chr7:127527800-127535000	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:127528800-127540400	Weak transcription	Colonic Mucosa	Colon
22	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:127529000-127540200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
25	chr7:127529200-127535400	Weak transcription	Left Ventricle	heart
26	chr7:127529200-127537400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:127529200-127540400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr7:127529200-127540400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:127529200-127540800	Weak transcription	Spleen	Spleen
30	chr7:127529200-127544600	Weak transcription	Thymus	Thymus
31	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
32	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
34	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:127529400-127533800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:127529400-127534600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:127529400-127535400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr7:127529400-127542200	Weak transcription	Fetal Heart	heart
39	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:127530400-127535600	Enhancers	Fetal Lung	lung
41	chr7:127530800-127535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:127530800-127540400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr7:127531000-127533600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:127531200-127540400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:127531400-127534200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr7:127531400-127534600	Strong transcription	HepG2	liver
47	chr7:127531400-127537600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr7:127531600-127533400	Strong transcription	Fetal Thymus	thymus
49	chr7:127531600-127533800	Strong transcription	HSMM	muscle
50	chr7:127531600-127535600	Weak transcription	Osteobl	bone

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