Variant report

Variant	rs56678091
Chromosome Location	chr1:10383452-10383453
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10382484..10384507-chr1:10403370..10405612,2	K562	blood:
2	chr1:10382347..10384488-chr1:10398364..10401134,2	K562	blood:
3	chr1:10381461..10384413-chr1:10458819..10461275,2	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11800418	0.83[AMR][1000 genomes]
rs1890614	0.83[AMR][1000 genomes]
rs57737711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57902453	0.83[AMR][1000 genomes]
rs58284848	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61166775	0.83[AMR][1000 genomes]
rs7532006	1.00[AMR][1000 genomes]
rs7544928	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv437200	chr1:10366487-10387704	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv437201	chr1:10370312-10387704	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
2	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
3	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
4	chr1:10364200-10394600	Weak transcription	Dnd41	blood
5	chr1:10364400-10384800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:10364800-10383800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:10364800-10386000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:10364800-10386000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:10364800-10386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:10364800-10386000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:10365000-10383800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr1:10365000-10385800	Weak transcription	NHEK	skin
15	chr1:10365200-10398400	Weak transcription	Fetal Heart	heart
16	chr1:10365600-10383800	Weak transcription	HMEC	breast
17	chr1:10365600-10385600	Weak transcription	Hela-S3	cervix
18	chr1:10365800-10394800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:10366800-10385800	Weak transcription	Fetal Brain Male	brain
20	chr1:10368400-10385800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:10370000-10384000	Weak transcription	NH-A	brain
22	chr1:10370200-10393800	Weak transcription	Right Atrium	heart
23	chr1:10371200-10383600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr1:10373200-10385600	Weak transcription	Fetal Lung	lung
25	chr1:10378200-10397200	Weak transcription	GM12878-XiMat	blood
26	chr1:10378800-10385800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:10378800-10388200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr1:10378800-10395200	Weak transcription	Thymus	Thymus
29	chr1:10379400-10384400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr1:10379400-10397200	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr1:10379600-10385400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:10379800-10383600	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:10379800-10387200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:10379800-10399400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:10380000-10385600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:10380000-10388800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr1:10380200-10399800	Weak transcription	Stomach Mucosa	stomach
38	chr1:10380200-10404800	Weak transcription	Psoas Muscle	Psoas
39	chr1:10380400-10386400	Weak transcription	Fetal Kidney	kidney
40	chr1:10380400-10386800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:10380400-10399600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:10380400-10436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:10380600-10383800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:10380600-10394400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:10380600-10401000	Weak transcription	A549	lung
46	chr1:10380600-10426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:10380800-10394200	Weak transcription	K562	blood
48	chr1:10381000-10384800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:10381000-10389800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:10381000-10436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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