Variant report

Variant	rs908792
Chromosome Location	chr1:224321220-224321221
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224300494..224303292-chr1:224320503..224323294,2	MCF-7	breast:
2	chr1:224319528..224321607-chr1:224321881..224324191,2	K562	blood:
3	chr1:224307549..224310401-chr1:224320612..224322134,2	K562	blood:
4	chr1:224313532..224316324-chr1:224319519..224321918,2	K562	blood:
5	chr1:224320813..224323530-chr1:224417880..224420679,2	K562	blood:

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10732277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10799475	1.00[AMR][1000 genomes]
rs10799485	0.84[AFR][1000 genomes]
rs11804144	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1492693	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810345	1.00[AMR][1000 genomes]
rs2131307	1.00[AMR][1000 genomes]
rs4653562	1.00[AMR][1000 genomes]
rs6426120	1.00[AMR][1000 genomes]
rs6426140	1.00[AMR][1000 genomes]
rs6426161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6673438	1.00[AMR][1000 genomes]
rs6684699	1.00[AMR][1000 genomes]
rs7531870	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534791	0.92[AFR][1000 genomes]
rs908794	1.00[AMR][1000 genomes]
rs969007	0.84[AFR][1000 genomes];1.00[AMR][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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
2	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:224314400-224333800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:224314400-224343400	Weak transcription	Psoas Muscle	Psoas
6	chr1:224315800-224331200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:224316400-224331200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr1:224316600-224352200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:224317200-224329800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr1:224317600-224328400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr1:224317600-224333400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:224317800-224321400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:224317800-224322600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr1:224317800-224323000	Strong transcription	Dnd41	blood
15	chr1:224317800-224325000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:224317800-224328200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr1:224317800-224328400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:224317800-224334000	Strong transcription	Fetal Intestine Large	intestine
19	chr1:224318000-224323000	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr1:224318000-224323400	Strong transcription	Liver	Liver
21	chr1:224318000-224324200	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:224318000-224324200	Strong transcription	HepG2	liver
23	chr1:224318000-224324400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:224318000-224328400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:224318000-224328400	Strong transcription	Fetal Thymus	thymus
26	chr1:224318000-224328600	Strong transcription	Duodenum Mucosa	Duodenum
27	chr1:224318000-224329600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr1:224318000-224330600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:224318000-224331200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:224318000-224332000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:224318200-224321400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:224318200-224322600	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:224318200-224323000	Strong transcription	NH-A	brain
34	chr1:224318200-224323000	Strong transcription	NHDF-Ad	bronchial
35	chr1:224318200-224323200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:224318200-224323600	Strong transcription	HSMM	muscle
37	chr1:224318200-224324400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:224318200-224325400	Strong transcription	Adipose Nuclei	Adipose
39	chr1:224318200-224333400	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:224318400-224321400	Weak transcription	Stomach Mucosa	stomach
41	chr1:224318400-224322400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:224318400-224331200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:224318600-224322000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:224319000-224325200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr1:224319200-224321600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:224319200-224329600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:224319200-224334000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:224319200-224335000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:224319400-224328200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:224319600-224328400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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