Variant report

Variant	rs13213388
Chromosome Location	chr6:161667630-161667631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:161654520..161656556-chr6:161665296..161667922,2	K562	blood:
2	chr6:161666263..161668529-chr6:161675962..161677807,2	K562	blood:
3	chr6:161661680..161663432-chr6:161664837..161669283,4	K562	blood:
4	chr6:161666914..161669377-chr6:161675645..161677713,3	K562	blood:
5	chr6:161409622..161412809-chr6:161664547..161667917,4	K562	blood:

Variant related genes	Relation type
ENSG00000085511	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11755744	0.87[EUR][1000 genomes]
rs13195273	0.86[EUR][1000 genomes]
rs3757028	0.88[EUR][1000 genomes]
rs4709505	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6913460	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6920683	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs71565800	0.87[EUR][1000 genomes]
rs9458171	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9458172	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886817	chr6:161371621-161846654	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3381361	chr6:161373617-161864101	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv949397	chr6:161592100-161812932	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv2752091	chr6:161592100-161855785	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv1029727	chr6:161607680-161814295	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1030623	chr6:161611170-161796985	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv538494	chr6:161611170-161796985	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv886818	chr6:161629323-161723705	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv481931	chr6:161647026-161961906	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
10	nsv533149	chr6:161653240-161769727	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161638200-161693800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:161638600-161668000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:161649600-161693800	Weak transcription	Right Atrium	heart
4	chr6:161651000-161677000	Weak transcription	Spleen	Spleen
5	chr6:161653800-161693800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:161655800-161680400	Weak transcription	HMEC	breast
7	chr6:161656200-161675600	Weak transcription	NHLF	lung
8	chr6:161657600-161677400	Weak transcription	Ovary	ovary
9	chr6:161657600-161683600	Weak transcription	HSMMtube	muscle
10	chr6:161657600-161693600	Weak transcription	Left Ventricle	heart
11	chr6:161657800-161669000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr6:161659400-161687200	Weak transcription	Esophagus	oesophagus
13	chr6:161659600-161672200	Weak transcription	Fetal Heart	heart
14	chr6:161664600-161680400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:161664800-161669800	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:161664800-161670200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:161664800-161672600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:161664800-161672600	Weak transcription	Lung	lung
19	chr6:161664800-161676000	Weak transcription	Gastric	stomach
20	chr6:161664800-161677800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:161664800-161680600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr6:161664800-161688000	Weak transcription	Fetal Intestine Large	intestine
23	chr6:161664800-161689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:161664800-161693800	Weak transcription	HSMM	muscle
25	chr6:161665000-161667800	Weak transcription	Osteobl	bone
26	chr6:161665000-161670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:161665000-161671800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:161665000-161675800	Weak transcription	Fetal Brain Male	brain
29	chr6:161665000-161678400	Weak transcription	NH-A	brain
30	chr6:161665000-161693600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr6:161665200-161668000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:161665200-161670400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:161665200-161671800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr6:161665200-161672600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:161665200-161681600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:161665200-161692600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr6:161665400-161672400	Weak transcription	Brain Angular Gyrus	brain
38	chr6:161665400-161675600	Weak transcription	Brain Germinal Matrix	brain
39	chr6:161665600-161675600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:161665800-161669400	Weak transcription	Fetal Brain Female	brain
41	chr6:161665800-161675800	Weak transcription	Brain Anterior Caudate	brain
42	chr6:161666000-161667800	Weak transcription	Brain Substantia Nigra	brain
43	chr6:161666000-161668200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:161666000-161668200	Strong transcription	Primary T cells from cord blood	blood
45	chr6:161666000-161669800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:161666000-161672200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:161666000-161672400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:161666000-161672400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:161666000-161675400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:161666000-161675600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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