Variant report

Variant	rs6675057
Chromosome Location	chr1:223250997-223250998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:223238702..223240898-chr1:223250937..223252895,2	K562	blood:
2	chr1:223248411..223251830-chr1:223252678..223254653,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11485986	1.00[EUR][1000 genomes]
rs11488545	1.00[EUR][1000 genomes]
rs11488546	1.00[EUR][1000 genomes]
rs11488550	1.00[EUR][1000 genomes]
rs1416691	1.00[EUR][1000 genomes]
rs2192616	1.00[EUR][1000 genomes]
rs2609375	1.00[EUR][1000 genomes]
rs2609376	1.00[EUR][1000 genomes]
rs3768284	1.00[EUR][1000 genomes]
rs5744102	1.00[EUR][1000 genomes]
rs5744153	1.00[EUR][1000 genomes]
rs61743732	1.00[EUR][1000 genomes]
rs74145600	1.00[EUR][1000 genomes]
rs851160	1.00[EUR][1000 genomes]
rs851215	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv1014896	chr1:223070446-223327185	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv873207	chr1:223078802-223292632	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223246800-223253400	Enhancers	Fetal Muscle Leg	muscle
2	chr1:223247200-223251400	Enhancers	Colon Smooth Muscle	Colon
3	chr1:223247200-223252800	Enhancers	Lung	lung
4	chr1:223247200-223253000	Enhancers	Fetal Lung	lung
5	chr1:223247800-223251400	Enhancers	Fetal Brain Male	brain
6	chr1:223248000-223251000	Enhancers	Stomach Smooth Muscle	stomach
7	chr1:223248000-223252600	Enhancers	Fetal Stomach	stomach
8	chr1:223248600-223251200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:223248800-223254400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:223249200-223252400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:223249200-223252800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:223249200-223253000	Enhancers	Left Ventricle	heart
13	chr1:223249200-223253200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:223249200-223254600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:223249200-223258400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:223249400-223251200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr1:223249400-223252800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr1:223249400-223254000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr1:223249800-223251000	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:223249800-223252800	Enhancers	Right Atrium	heart
21	chr1:223250000-223251000	Enhancers	Esophagus	oesophagus
22	chr1:223250000-223251200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:223250000-223251200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:223250000-223251200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:223250200-223251200	Enhancers	Adipose Nuclei	Adipose
26	chr1:223250200-223251200	Enhancers	HUVEC	blood vessel
27	chr1:223250200-223251400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:223250400-223251000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:223250400-223251400	Bivalent Enhancer	Placenta	Placenta
30	chr1:223250600-223251400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:223250600-223252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:223250600-223254400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr1:223250600-223254600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:223250600-223254600	Weak transcription	Fetal Brain Female	brain
35	chr1:223250800-223251000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:223250800-223251200	Weak transcription	Right Ventricle	heart
37	chr1:223250800-223251400	Enhancers	Spleen	Spleen
38	chr1:223250800-223254600	Weak transcription	Fetal Heart	heart

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