Variant report

Variant	rs1223563
Chromosome Location	chr6:13196070-13196071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:13195285..13198115-chr6:13330626..13333611,2	K562	blood:
2	chr6:13184097..13187942-chr6:13192836..13196557,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1150595	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1150598	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1150600	0.95[CEU][hapmap];0.84[EUR][1000 genomes]
rs11760186	0.95[CEU][hapmap]
rs12193156	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12198274	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1223562	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1232378	0.86[EUR][1000 genomes]
rs12526983	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13191209	0.96[EUR][1000 genomes]
rs13206277	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34624425	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35207258	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3916163	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs4711936	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4715139	0.80[EUR][1000 genomes]
rs4715145	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4715146	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4715147	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62385558	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13178800-13217400	Weak transcription	Fetal Muscle Leg	muscle
2	chr6:13182000-13205400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr6:13182000-13211800	Weak transcription	Fetal Brain Female	brain
4	chr6:13182000-13212000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:13182000-13230000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:13183000-13207000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:13184000-13220800	Weak transcription	Brain Germinal Matrix	brain
8	chr6:13184200-13197000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:13185000-13202800	Weak transcription	Brain Anterior Caudate	brain
10	chr6:13185200-13204000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:13185200-13205200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:13185400-13204800	Weak transcription	Lung	lung
13	chr6:13185400-13205800	Weak transcription	Aorta	Aorta
14	chr6:13185400-13205800	Weak transcription	Pancreas	Pancrea
15	chr6:13187400-13217400	Weak transcription	Right Atrium	heart
16	chr6:13191200-13204400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:13191800-13210800	Weak transcription	Fetal Heart	heart
18	chr6:13192000-13197000	Weak transcription	Left Ventricle	heart
19	chr6:13192000-13205600	Weak transcription	Right Ventricle	heart
20	chr6:13192400-13216800	Weak transcription	Fetal Intestine Small	intestine
21	chr6:13193400-13205400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:13195400-13197600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:13195600-13201600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr6:13195600-13205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:13195800-13206200	Weak transcription	Brain Hippocampus Middle	brain
26	chr6:13195800-13207400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:13196000-13198400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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