Variant report

Variant	rs13218804
Chromosome Location	chr6:163750827-163750828
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:163746176..163748803-chr6:163750592..163752123,2	K562	blood:
2	chr6:163750296..163752103-chr6:163834031..163836174,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12665161	0.84[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13207719	0.88[ASN][1000 genomes]
rs55973812	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56220231	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73029059	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1022610	chr6:163591786-163814041	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv605188	chr6:163697439-163772096	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3391848	chr6:163748791-163752416	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv1803546	chr6:163749552-163757127	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv13148	chr6:163750285-163750850	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv1829011	chr6:163750414-163751551	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163744200-163751000	Weak transcription	Right Atrium	heart
2	chr6:163745000-163753200	Weak transcription	Right Ventricle	heart
3	chr6:163745200-163767000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr6:163745600-163773600	Enhancers	Brain Substantia Nigra	brain
5	chr6:163745800-163754000	Enhancers	Brain Angular Gyrus	brain
6	chr6:163746400-163755200	Weak transcription	Psoas Muscle	Psoas
7	chr6:163746600-163751000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:163746600-163751200	Weak transcription	Fetal Heart	heart
9	chr6:163746600-163753400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:163746600-163759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:163746600-163759800	Enhancers	Brain Anterior Caudate	brain
12	chr6:163746600-163759800	Enhancers	Brain Hippocampus Middle	brain
13	chr6:163746600-163764400	Enhancers	Brain Cingulate Gyrus	brain
14	chr6:163746800-163751000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:163746800-163751000	Weak transcription	HSMM	muscle
16	chr6:163746800-163754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:163748600-163752400	Enhancers	Fetal Muscle Leg	muscle
18	chr6:163748600-163756600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:163749400-163751000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:163749800-163751000	Weak transcription	Left Ventricle	heart
21	chr6:163749800-163751000	Weak transcription	Spleen	Spleen
22	chr6:163749800-163751600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:163750000-163751000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr6:163750400-163751800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:163750400-163753600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr6:163750600-163751200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:163750600-163751800	Enhancers	Fetal Muscle Trunk	muscle
28	chr6:163750800-163751200	Enhancers	A549	lung
29	chr6:163750800-163751400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:163750800-163751600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr6:163750800-163751600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:163750800-163751600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr6:163750800-163751600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr6:163750800-163751600	Enhancers	Adipose Nuclei	Adipose
35	chr6:163750800-163751600	Enhancers	Fetal Stomach	stomach
36	chr6:163750800-163751600	Enhancers	NH-A	brain
37	chr6:163750800-163753200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:163750800-163753400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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