Variant report

Variant	rs4971018
Chromosome Location	chr1:151210126-151210127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151209513..151214380-chr1:151215209..151220595,6	MCF-7	breast:
2	1:151203965-151215310..1:151402394-151411623	GM12878	blood:
3	chr1:151142755..151144595-chr1:151209312..151211204,2	MCF-7	breast:
4	1:151171193-151178589..1:151203965-151215310	GM12878	blood:
5	1:151203965-151215310..1:151592347-151603110	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000206635	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000143398	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10749660	0.85[JPT][hapmap]
rs10788801	1.00[ASW][hapmap];0.83[CHB][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204785	0.85[JPT][hapmap]
rs11589120	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1536617	0.85[JPT][hapmap]
rs16827941	0.84[JPT][hapmap]
rs1752387	0.90[MKK][hapmap]
rs2025900	0.92[JPT][hapmap]
rs2031797	0.85[JPT][hapmap]
rs2769267	0.92[JPT][hapmap]
rs2769268	0.92[JPT][hapmap]
rs2769273	0.92[JPT][hapmap]
rs2800946	0.92[JPT][hapmap]
rs2800953	0.85[JPT][hapmap]
rs3811405	1.00[ASW][hapmap];0.92[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.80[TSI][hapmap];1.00[YRI][hapmap]
rs3811406	0.85[JPT][hapmap];0.84[LWK][hapmap];1.00[MKK][hapmap];0.80[ASN][1000 genomes]
rs4520422	0.85[JPT][hapmap]
rs4636463	1.00[ASW][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4970944	0.85[JPT][hapmap]
rs4971013	0.84[JPT][hapmap]
rs4971017	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4971023	0.85[JPT][hapmap]
rs4971028	0.84[ASN][1000 genomes]
rs4971029	0.85[JPT][hapmap]
rs6587559	0.85[JPT][hapmap]
rs6678528	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6686402	0.85[JPT][hapmap]
rs6695344	0.85[JPT][hapmap]
rs6695901	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6702612	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527032	0.85[JPT][hapmap]
rs7532935	0.85[JPT][hapmap]
rs7539584	0.85[JPT][hapmap]
rs7544947	0.85[JPT][hapmap]
rs7545024	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552226	0.86[ASW][hapmap];0.82[LWK][hapmap];0.85[YRI][hapmap]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers 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	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 target site	106 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	chr1:151173200-151212000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:151173600-151210600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:151178200-151223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:151189600-151223600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:151190400-151223200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr1:151190400-151223400	Strong transcription	Fetal Thymus	thymus
8	chr1:151191800-151223000	Strong transcription	Fetal Stomach	stomach
9	chr1:151193400-151223000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:151194400-151223600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr1:151195000-151223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:151195200-151227200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:151195600-151223000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:151195600-151223200	Strong transcription	Placenta	Placenta
15	chr1:151196000-151223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:151196200-151210200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:151196200-151222800	Strong transcription	Thymus	Thymus
18	chr1:151196200-151223200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:151196600-151222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:151196600-151223200	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:151196800-151222800	Strong transcription	Fetal Muscle Leg	muscle
22	chr1:151197000-151222800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:151197000-151222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:151197000-151223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:151197200-151223200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr1:151197400-151223200	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:151197400-151223600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:151199000-151210200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:151199200-151222600	Strong transcription	Dnd41	blood
30	chr1:151199200-151223000	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr1:151199400-151222400	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr1:151199400-151222600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:151199400-151222600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr1:151199400-151223000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:151199400-151223200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:151199600-151213200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:151199600-151222200	Strong transcription	HepG2	liver
38	chr1:151199600-151222400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:151199600-151222400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:151199600-151223200	Strong transcription	Liver	Liver
41	chr1:151199600-151223400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr1:151199800-151210600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:151199800-151210600	Strong transcription	NHEK	skin
44	chr1:151199800-151213400	Strong transcription	HUVEC	blood vessel
45	chr1:151199800-151218800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:151199800-151222400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:151199800-151222400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr1:151199800-151223000	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:151199800-151223200	Strong transcription	Adipose Nuclei	Adipose
50	chr1:151200200-151213400	Strong transcription	Ovary	ovary

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