Variant report

Variant	rs4971032
Chromosome Location	chr1:151290424-151290425
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151277677..151279590-chr1:151290273..151292071,2	MCF-7	breast:
2	chr1:151281649..151290428-chr1:151296694..151302315,21	MCF-7	breast:
3	1:151289152-151293154..1:151411623-151426875	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000273481	Chromatin interaction
ENSG00000143393	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1056847	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10788803	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10788804	0.80[EUR][1000 genomes]
rs10888408	0.85[ASN][1000 genomes]
rs10888409	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10888410	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10888411	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204791	0.85[ASN][1000 genomes]
rs11204795	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12048670	0.86[ASN][1000 genomes]
rs12069445	0.80[EUR][1000 genomes]
rs2275900	0.85[ASN][1000 genomes]
rs41302131	0.85[ASN][1000 genomes]
rs4246525	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4522000	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4970948	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970949	0.80[EUR][1000 genomes]
rs4971025	0.85[ASN][1000 genomes]
rs4971026	0.85[ASN][1000 genomes]
rs4971027	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4971030	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971031	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4971033	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5022636	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6587562	0.87[ASN][1000 genomes]
rs6677686	0.80[EUR][1000 genomes]
rs6681071	0.84[ASN][1000 genomes]
rs6681163	0.84[ASN][1000 genomes]
rs744536	0.81[EUR][1000 genomes]
rs7518924	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7531495	0.82[EUR][1000 genomes]
rs7545392	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7552906	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs943637	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
3	esv2754960	chr1:151240542-151331304	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv34461	chr1:151240542-151411635	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	esv2753774	chr1:151240542-151411635	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr1:151257200-151297600	Strong transcription	Dnd41	blood
2	chr1:151257600-151293600	Strong transcription	Brain Germinal Matrix	brain
3	chr1:151258200-151297200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr1:151258400-151293400	Strong transcription	Fetal Brain Female	brain
5	chr1:151258400-151297800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr1:151260000-151298000	Strong transcription	Thymus	Thymus
7	chr1:151261600-151297800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:151262000-151298000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:151262600-151297600	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:151265800-151298000	Strong transcription	Fetal Thymus	thymus
11	chr1:151271400-151298800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:151273200-151298000	Strong transcription	Primary T cells from cord blood	blood
13	chr1:151273800-151297800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:151274400-151295000	Strong transcription	Primary B cells from cord blood	blood
15	chr1:151280200-151299200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:151280400-151299000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:151283200-151298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:151283200-151299000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:151283400-151296000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:151283400-151297400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:151284600-151292400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:151284800-151292800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:151284800-151295200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:151285000-151297200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:151285200-151291600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr1:151285200-151295400	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr1:151285200-151297400	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr1:151285400-151294400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:151285600-151292200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:151285600-151298000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:151285800-151294400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:151286000-151294600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:151286400-151297800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:151286800-151298400	Strong transcription	Fetal Intestine Large	intestine
35	chr1:151287000-151291800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:151287000-151292400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:151287000-151298400	Weak transcription	Small Intestine	intestine
38	chr1:151287000-151298600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr1:151287200-151291800	Strong transcription	Fetal Intestine Small	intestine
40	chr1:151287200-151292600	Strong transcription	Spleen	Spleen
41	chr1:151287200-151293000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:151287200-151294600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:151287200-151295400	Strong transcription	Fetal Lung	lung
44	chr1:151287200-151296200	Weak transcription	Stomach Mucosa	stomach
45	chr1:151287200-151297800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:151287200-151298000	Weak transcription	Fetal Heart	heart
47	chr1:151287400-151292000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:151287400-151293000	Weak transcription	Psoas Muscle	Psoas
49	chr1:151287400-151293600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151287400-151297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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