Variant report

Variant	rs6695255
Chromosome Location	chr1:175042046-175042047
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	chr1:175041206..175043201-chr1:175056003..175057829,2	K562	blood:
2	chr1:175041397..175042225-chr14:23298848..23299502,2	NB4	blood:

Variant related genes	Relation type
ENSG00000172590	Chromatin interaction
ENSG00000155465	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11577778	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11578942	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578961	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583313	0.81[EUR][1000 genomes]
rs12059398	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12065394	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12068402	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12087791	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16847779	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302688	0.80[EUR][1000 genomes]
rs17374668	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2269647	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55808408	0.80[EUR][1000 genomes]
rs56226643	0.86[ASN][1000 genomes]
rs59822966	0.80[EUR][1000 genomes]
rs61541139	0.80[EUR][1000 genomes]
rs6665471	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703193	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9650986	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011472	chr1:175013165-175042885	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1012861	chr1:175021780-175063160	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv535210	chr1:175021780-175063160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175039800-175042400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:175039800-175046600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr1:175040400-175042800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:175040400-175043200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:175040600-175044000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:175040800-175043000	Enhancers	Fetal Stomach	stomach
7	chr1:175041000-175042200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:175041000-175042400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:175041000-175042400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr1:175041000-175042600	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:175041000-175043000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:175041000-175043000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:175041000-175043400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:175041000-175044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr1:175041000-175044200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr1:175041000-175044200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:175041200-175042200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr1:175041200-175042200	Enhancers	Fetal Thymus	thymus
19	chr1:175041200-175042400	Enhancers	Placenta	Placenta
20	chr1:175041200-175042400	Enhancers	Spleen	Spleen
21	chr1:175041200-175042400	Flanking Active TSS	Dnd41	blood
22	chr1:175041200-175043200	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:175041400-175042200	Enhancers	Osteobl	bone
24	chr1:175041400-175042400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr1:175041400-175042400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr1:175041400-175042400	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr1:175041400-175042400	Enhancers	NHDF-Ad	bronchial
28	chr1:175041400-175042600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:175041400-175042800	Enhancers	GM12878-XiMat	blood
30	chr1:175041400-175043000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:175041400-175043000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:175041600-175042200	Active TSS	Brain Cingulate Gyrus	brain
33	chr1:175041600-175042200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr1:175041600-175042400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:175041600-175042400	Enhancers	Rectal Smooth Muscle	rectum
36	chr1:175041600-175043200	Enhancers	Fetal Brain Male	brain
37	chr1:175041800-175042200	Active TSS	Stomach Smooth Muscle	stomach
38	chr1:175041800-175042200	Flanking Active TSS	NH-A	brain
39	chr1:175041800-175042400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr1:175041800-175042400	Enhancers	Fetal Kidney	kidney
41	chr1:175041800-175042600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:175041800-175042800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr1:175041800-175042800	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr1:175041800-175043200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:175041800-175044800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:175041800-175045000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr1:175042000-175042200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:175042000-175042200	Enhancers	Brain Substantia Nigra	brain
49	chr1:175042000-175042400	Enhancers	Brain Anterior Caudate	brain
50	chr1:175042000-175042400	Enhancers	Brain Inferior Temporal Lobe	brain

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