Variant report

Variant	rs6689563
Chromosome Location	chr1:212272793-212272794
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:212272613-212272810	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212270755..212277124-chr1:212457942..212461824,7	K562	blood:

Variant related genes	Relation type
DTL	TF binding region
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10863938	0.81[AFR][1000 genomes]
rs6540717	0.81[AFR][1000 genomes]
rs6672030	0.81[AFR][1000 genomes]
rs6683980	0.81[AFR][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	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212214400-212278000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:212241600-212284600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:212254800-212278000	Weak transcription	NHDF-Ad	bronchial
4	chr1:212256400-212278600	Weak transcription	NHLF	lung
5	chr1:212262000-212276800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:212262000-212283000	Weak transcription	NH-A	brain
7	chr1:212262000-212284400	Weak transcription	Osteobl	bone
8	chr1:212262200-212273600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:212262200-212273800	Weak transcription	NHEK	skin
10	chr1:212262200-212279600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:212262600-212273800	Weak transcription	HMEC	breast
13	chr1:212263000-212275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:212263400-212274000	Weak transcription	Fetal Lung	lung
15	chr1:212263400-212278200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:212263600-212273800	Weak transcription	HUVEC	blood vessel
17	chr1:212264000-212273800	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr1:212264400-212282400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:212265200-212273000	Weak transcription	HepG2	liver
20	chr1:212266000-212273200	Weak transcription	A549	lung
21	chr1:212266000-212274200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:212267000-212273800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr1:212267200-212273600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:212267200-212287000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:212268600-212282800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:212269800-212279600	Strong transcription	Dnd41	blood
27	chr1:212270200-212278800	Weak transcription	Primary T cells from cord blood	blood
28	chr1:212270400-212280400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:212270600-212276800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:212270600-212280200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr1:212270800-212279800	Strong transcription	Fetal Thymus	thymus
32	chr1:212271000-212275400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:212271200-212274600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:212271400-212274400	Strong transcription	Thymus	Thymus
35	chr1:212271400-212280000	Strong transcription	GM12878-XiMat	blood
36	chr1:212271600-212273000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:212271600-212280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:212271600-212287000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:212271800-212273400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:212271800-212273600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr1:212271800-212273800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:212271800-212275400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:212271800-212277400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr1:212271800-212277600	Strong transcription	Hela-S3	cervix
45	chr1:212271800-212278600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:212271800-212280200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:212272000-212273200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:212272000-212281000	Weak transcription	Esophagus	oesophagus
49	chr1:212272000-212285400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:212272000-212285800	Weak transcription	Lung	lung

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