Variant report

Variant	rs72834590
Chromosome Location	chr6:15341678-15341679
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:15339598..15341681-chr6:15358454..15361224,2	K562	blood:
2	chr6:15340578..15343922-chr6:15348379..15351568,3	K562	blood:
3	chr6:15341234..15343785-chr6:15346547..15348228,2	MCF-7	breast:
4	chr6:15340747..15343186-chr6:15343295..15345820,2	K562	blood:
5	chr6:15339473..15343526-chr6:15347239..15351934,4	K562	blood:
6	chr6:15247363..15250406-chr6:15339342..15342224,4	K562	blood:
7	chr6:15336788..15338488-chr6:15341529..15343382,2	K562	blood:
8	chr6:15326922..15329767-chr6:15340745..15343836,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction
ENSG00000235488	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10949291	0.86[AMR][1000 genomes]
rs10949292	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10949295	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11753952	0.82[EUR][1000 genomes]
rs11759478	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11759828	0.93[AMR][1000 genomes]
rs11759847	0.86[AMR][1000 genomes]
rs12192599	0.93[AMR][1000 genomes]
rs12198692	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12198694	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12199895	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12201889	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12204124	0.81[AMR][1000 genomes]
rs12205420	0.93[AMR][1000 genomes]
rs12206745	0.86[AMR][1000 genomes]
rs12209228	0.83[ASN][1000 genomes]
rs12209453	0.93[AMR][1000 genomes]
rs12209539	0.86[AMR][1000 genomes]
rs12209748	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12210592	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12211777	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12212013	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12214719	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12215596	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12215740	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16876250	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17575737	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17619838	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17637773	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17687211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17713010	0.86[AMR][1000 genomes]
rs55634912	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs55980198	0.83[ASN][1000 genomes]
rs6902997	0.81[AMR][1000 genomes]
rs6919296	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6935879	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6938919	0.84[EUR][1000 genomes]
rs72834551	0.93[AMR][1000 genomes]
rs7765425	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15327800-15375800	Weak transcription	Aorta	Aorta
2	chr6:15328000-15342000	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr6:15329800-15343600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:15330800-15348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr6:15331600-15345400	Weak transcription	Ovary	ovary
6	chr6:15331600-15346000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:15331600-15347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:15332000-15355800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:15332000-15359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:15333200-15351400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr6:15333800-15347600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:15334800-15350200	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr6:15335400-15349800	Enhancers	Fetal Thymus	thymus
14	chr6:15337600-15342600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:15337800-15346400	Weak transcription	NHDF-Ad	bronchial
16	chr6:15338000-15351600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:15338200-15342400	Weak transcription	Brain Angular Gyrus	brain
18	chr6:15338400-15342400	Weak transcription	Lung	lung
19	chr6:15338400-15349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:15338400-15351600	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:15338600-15343800	Weak transcription	Right Ventricle	heart
22	chr6:15338800-15341800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:15338800-15350600	Weak transcription	Adipose Nuclei	Adipose
24	chr6:15338800-15351600	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:15339000-15341800	Enhancers	Thymus	Thymus
26	chr6:15339400-15343600	Weak transcription	Fetal Lung	lung
27	chr6:15339400-15351600	Weak transcription	Right Atrium	heart
28	chr6:15339600-15347000	Weak transcription	Spleen	Spleen
29	chr6:15340000-15341800	Enhancers	Small Intestine	intestine
30	chr6:15340000-15342400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:15340000-15342600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr6:15340000-15344200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr6:15340000-15344600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr6:15340000-15344800	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:15340000-15344800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:15340000-15346200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr6:15340000-15347000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr6:15340000-15347200	Enhancers	Primary B cells from peripheral blood	blood
39	chr6:15340200-15341800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:15340200-15341800	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:15340200-15342000	Enhancers	Esophagus	oesophagus
42	chr6:15340200-15342600	Enhancers	Stomach Mucosa	stomach
43	chr6:15340200-15342800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:15340200-15342800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:15340200-15343000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:15340200-15343000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr6:15340200-15344200	Enhancers	Psoas Muscle	Psoas
48	chr6:15340400-15341800	Enhancers	Dnd41	blood
49	chr6:15340400-15342000	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:15340400-15342600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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