Variant report

Variant	rs73349889
Chromosome Location	chr5:177571967-177571968
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	chr5:177563930-177577112	K562	blood:	n/a	n/a
2	POLR2A	chr5:177569140-177571973	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177571121..177572812-chr8:122157856..122160060,2	MCF-7	breast:
2	chr5:177502832..177503538-chr5:177571735..177572454,2	MCF-7	breast:

Variant related genes	Relation type
RMND5B	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11951603	1.00[AMR][1000 genomes]
rs57559233	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57947175	1.00[AMR][1000 genomes]
rs59922179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60772567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61577981	1.00[AMR][1000 genomes]
rs73338853	1.00[AMR][1000 genomes]
rs73348139	1.00[AMR][1000 genomes]
rs73348150	1.00[AMR][1000 genomes]
rs73348160	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348177	1.00[AMR][1000 genomes]
rs73348182	1.00[AMR][1000 genomes]
rs73348185	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348192	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73348199	1.00[AMR][1000 genomes]
rs73349806	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73351244	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
4	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
8	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	nsv965520	chr5:177570961-177577311	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177558800-177576800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr5:177559000-177572800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:177559000-177572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:177559000-177574000	Weak transcription	Small Intestine	intestine
5	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:177559200-177573000	Weak transcription	Psoas Muscle	Psoas
8	chr5:177559200-177573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:177559200-177579800	Weak transcription	Right Atrium	heart
10	chr5:177559800-177577600	Weak transcription	Fetal Brain Male	brain
11	chr5:177560200-177579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:177560200-177579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:177560200-177579800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:177560400-177578400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr5:177560400-177578400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:177560400-177578600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:177560600-177579400	Strong transcription	Fetal Intestine Small	intestine
18	chr5:177560800-177579400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:177560800-177579600	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:177561000-177572800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr5:177561000-177578000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:177561000-177578200	Strong transcription	Adipose Nuclei	Adipose
23	chr5:177561000-177578800	Strong transcription	Thymus	Thymus
24	chr5:177561000-177579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr5:177561000-177579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:177561000-177579800	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr5:177561200-177578800	Strong transcription	Primary T cells from cord blood	blood
28	chr5:177561200-177579400	Strong transcription	Fetal Thymus	thymus
29	chr5:177562200-177577400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr5:177562200-177578800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:177564000-177572800	Weak transcription	Stomach Mucosa	stomach
32	chr5:177566600-177572800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr5:177566800-177576400	Strong transcription	Dnd41	blood
34	chr5:177566800-177576800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:177567000-177578000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr5:177567000-177578200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr5:177567000-177578800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:177567000-177579000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr5:177567200-177578600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr5:177567400-177572800	Weak transcription	Fetal Kidney	kidney
41	chr5:177567400-177579000	Strong transcription	Fetal Brain Female	brain
42	chr5:177568000-177578600	Strong transcription	HepG2	liver
43	chr5:177568000-177578800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr5:177568200-177579400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr5:177568400-177578600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:177568400-177578600	Strong transcription	Colonic Mucosa	Colon
47	chr5:177568600-177576200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:177568800-177572200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr5:177568800-177576400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:177568800-177576400	Strong transcription	Brain Hippocampus Middle	brain

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