Variant report

Variant	rs7549308
Chromosome Location	chr1:153614712-153614713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153548195..153551258-chr1:153612052..153615692,3	MCF-7	breast:
2	chr1:153614249..153616025-chr1:153735585..153737943,2	K562	blood:
3	chr1:153613823..153617747-chr1:153641918..153644895,5	K562	blood:
4	chr1:153542610..153547535-chr1:153612482..153617138,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143621	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10158761	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3891075	1.00[GIH][hapmap]
rs61805740	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7533987	1.00[GIH][hapmap]
rs9728059	0.87[EUR][1000 genomes]
rs9728400	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS 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 miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 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	chr1:153608200-153618600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:153608200-153618800	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:153608200-153619600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:153608400-153616400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
5	chr1:153608400-153618600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:153608400-153618800	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr1:153608400-153618800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:153608400-153619200	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:153608400-153619200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:153608400-153619800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:153608600-153615600	Strong transcription	Fetal Intestine Large	intestine
12	chr1:153608600-153618600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:153608600-153618800	Strong transcription	HUVEC	blood vessel
14	chr1:153608600-153619400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:153608600-153619400	Strong transcription	Osteobl	bone
16	chr1:153608600-153619600	Strong transcription	Primary hematopoietic stem cells	blood
17	chr1:153608600-153619600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:153608600-153619600	Strong transcription	HMEC	breast
19	chr1:153608600-153620200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:153608600-153620200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:153608800-153618400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:153608800-153618800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:153608800-153619400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:153608800-153619800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:153608800-153620200	Strong transcription	Fetal Thymus	thymus
26	chr1:153609000-153616200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:153609000-153616600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:153609000-153617000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:153609000-153618600	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr1:153609200-153617600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr1:153609200-153618800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:153609200-153619400	Strong transcription	Spleen	Spleen
33	chr1:153609200-153620000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:153609200-153620000	Strong transcription	Fetal Brain Female	brain
35	chr1:153609200-153620200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:153609400-153618800	Strong transcription	Fetal Lung	lung
37	chr1:153609400-153618800	Strong transcription	NH-A	brain
38	chr1:153609400-153619000	Strong transcription	Thymus	Thymus
39	chr1:153609600-153617000	Strong transcription	Primary T cells from cord blood	blood
40	chr1:153609600-153617400	Strong transcription	Ovary	ovary
41	chr1:153609600-153618000	Strong transcription	Primary B cells from cord blood	blood
42	chr1:153609600-153618800	Strong transcription	Placenta	Placenta
43	chr1:153609600-153618800	Strong transcription	K562	blood
44	chr1:153609600-153618800	Strong transcription	NHDF-Ad	bronchial
45	chr1:153609600-153619000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:153609600-153619200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:153609600-153619200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr1:153609600-153619400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:153609600-153619400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr1:153609600-153619400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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