Variant report

Variant	rs4971050
Chromosome Location	chr1:155312029-155312030
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155310848..155313195-chr1:155314992..155317631,2	K562	blood:
2	chr1:155311963..155313733-chr1:155337378..155340313,2	MCF-7	breast:
3	chr1:155293363..155295727-chr1:155310935..155312510,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160753	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000207720	Chromatin interaction
ENSG00000116539	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10752610	1.00[ASN][1000 genomes]
rs10908468	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs12077729	1.00[ASN][1000 genomes]
rs17367421	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17377506	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs4971070	0.87[AMR][1000 genomes]
rs4971071	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4971083	0.82[CEU][hapmap]
rs4971086	1.00[ASN][1000 genomes]
rs4971087	1.00[ASN][1000 genomes]
rs61258690	1.00[ASN][1000 genomes]
rs7340058	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
2	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh 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	452 gene(s)	inside rSNPs	diseases
3	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	407 gene(s)	inside rSNPs	diseases
4	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
5	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
6	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
7	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155296000-155334400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:155296200-155312800	Weak transcription	Fetal Heart	heart
3	chr1:155296200-155349400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:155296600-155348200	Strong transcription	Fetal Stomach	stomach
5	chr1:155296800-155330000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:155297000-155330800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:155297200-155322600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:155297800-155357400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:155298200-155320800	Strong transcription	Fetal Thymus	thymus
10	chr1:155299600-155330200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr1:155299600-155341200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr1:155299600-155353600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:155301200-155332200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:155301800-155334800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:155302400-155341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:155302600-155330800	Strong transcription	Placenta	Placenta
17	chr1:155302800-155315000	Strong transcription	Osteobl	bone
18	chr1:155302800-155316800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:155303000-155317800	Strong transcription	Fetal Brain Female	brain
20	chr1:155303000-155322000	Strong transcription	Thymus	Thymus
21	chr1:155303000-155328000	Strong transcription	Primary T cells from cord blood	blood
22	chr1:155303000-155330400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:155303000-155331200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr1:155303000-155332200	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr1:155303000-155334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:155303000-155341200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:155303000-155352800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:155303200-155330800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:155303200-155341000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:155303400-155314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:155303400-155332600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:155303600-155332200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr1:155304200-155317000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:155304200-155332000	Strong transcription	Dnd41	blood
35	chr1:155304400-155318200	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr1:155304400-155330200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr1:155304400-155330800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr1:155304400-155331000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr1:155304400-155337200	Strong transcription	Fetal Muscle Leg	muscle
40	chr1:155304600-155314800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:155304600-155318000	Strong transcription	Left Ventricle	heart
42	chr1:155304600-155319400	Strong transcription	Primary B cells from cord blood	blood
43	chr1:155304600-155326000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:155304600-155330200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:155304600-155331800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:155304600-155332000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:155306000-155314600	Strong transcription	Fetal Lung	lung
48	chr1:155306000-155319400	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:155306000-155319400	Strong transcription	Brain Substantia Nigra	brain
50	chr1:155306000-155324200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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