Variant report

Variant	rs4077629
Chromosome Location	chr1:161360730-161360731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161359623..161362089-chr1:161395058..161398010,2	K562	blood:
2	chr1:161360107..161360850-chr1:161369482..161370266,2	MCF-7	breast:
3	chr1:161359596..161364953-chr1:161367894..161371258,10	MCF-7	breast:
4	chr1:161129987..161131759-chr1:161359681..161362031,2	MCF-7	breast:
5	chr1:161123324..161125351-chr1:161358305..161361204,4	K562	blood:
6	chr1:161171621..161173767-chr1:161358321..161361966,4	K562	blood:
7	chr1:161194176..161197310-chr1:161359210..161361153,3	K562	blood:
8	chr1:161283233..161286394-chr1:161358272..161361598,5	K562	blood:
9	chr1:161360146..161362963-chr1:161370800..161372677,2	MCF-7	breast:
10	chr1:161194802..161197493-chr1:161358344..161361187,2	MCF-7	breast:
11	chr1:161356052..161365834-chr1:161365949..161371376,30	K562	blood:
12	chr1:161351090..161356215-chr1:161358922..161361757,5	MCF-7	breast:
13	chr1:161335442..161337167-chr1:161358707..161360839,2	K562	blood:
14	chr1:161163886..161166683-chr1:161359884..161361575,2	K562	blood:
15	chr1:161170753..161176736-chr1:161358018..161361909,11	K562	blood:
16	chr1:161358757..161361618-chr1:161398787..161400616,2	K562	blood:
17	chr1:161357437..161366069-chr1:161366187..161371309,27	K562	blood:
18	chr1:161171093..161173852-chr1:161357935..161360816,5	MCF-7	breast:
19	chr1:161337567..161339294-chr1:161358166..161360849,2	K562	blood:
20	chr1:161358247..161360860-chr1:161371655..161373907,3	K562	blood:
21	chr1:161360589..161362479-chr1:161395058..161397754,2	K562	blood:
22	chr1:161135123..161137226-chr1:161359788..161361657,2	MCF-7	breast:
23	chr1:161360479..161362170-chr1:161367532..161370441,2	MCF-7	breast:
24	chr1:161356452..161358172-chr1:161358237..161361223,3	MCF-7	breast:
25	chr1:161147390..161148899-chr1:161358540..161360873,2	MCF-7	breast:
26	chr1:161334444..161337167-chr1:161357500..161360839,3	K562	blood:
27	chr1:161358408..161361301-chr1:161374054..161376270,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143258	Chromatin interaction
ENSG00000158859	Chromatin interaction
ENSG00000143224	Chromatin interaction
ENSG00000206921	Chromatin interaction
ENSG00000263548	Chromatin interaction
ENSG00000158882	Chromatin interaction
ENSG00000188931	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000143222	Chromatin interaction
ENSG00000235477	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000215840	Chromatin interaction

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10157158	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs10494350	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10494351	0.91[CHB][hapmap]
rs10494352	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs10494353	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10494355	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs1133805	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs11582439	0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs12239492	0.91[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs12725465	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12730813	0.83[CHB][hapmap]
rs12738660	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs12745476	0.82[CHB][hapmap]
rs13374037	0.89[CHB][hapmap]
rs16832733	1.00[YRI][hapmap]
rs16832790	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs16832809	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16832811	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16832813	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs16832817	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16832820	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs16832823	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs16832824	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16832826	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs16832835	0.91[CHB][hapmap]
rs16832842	0.91[CHB][hapmap]
rs16832850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832851	0.91[CHB][hapmap]
rs16832854	0.91[CHB][hapmap]
rs16832866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16832869	0.91[CHB][hapmap]
rs16832871	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs16832872	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16832874	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs16832883	0.91[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs16832884	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs16832887	0.91[CHB][hapmap]
rs16832892	0.91[CHB][hapmap]
rs16832900	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs16832922	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs16832948	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16832949	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3934593	0.83[CHB][hapmap];0.87[JPT][hapmap]
rs3935401	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs4077290	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4077631	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs4255402	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs4255403	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs4291521	0.91[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4319356	0.91[CHB][hapmap]
rs4463689	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4469725	0.81[ASN][1000 genomes]
rs4474277	0.90[CHB][hapmap]
rs4477296	0.81[ASN][1000 genomes]
rs4481873	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs4523531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4585997	1.00[CHB][hapmap];0.87[JPT][hapmap]
rs4600063	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs4631719	0.81[ASN][1000 genomes]
rs4634927	0.83[CHB][hapmap]
rs4656998	1.00[YRI][hapmap]
rs4656999	1.00[YRI][hapmap]
rs55674249	0.81[ASN][1000 genomes]
rs55694670	0.99[ASN][1000 genomes]
rs55857747	0.89[ASN][1000 genomes]
rs55996762	0.81[ASN][1000 genomes]
rs56050874	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56062031	0.81[ASN][1000 genomes]
rs56122953	0.81[ASN][1000 genomes]
rs56169917	0.81[ASN][1000 genomes]
rs57474688	0.81[ASN][1000 genomes]
rs57884260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57931640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58604210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60882053	0.81[ASN][1000 genomes]
rs61000526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61174143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61219424	0.81[ASN][1000 genomes]
rs61326870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6413453	1.00[YRI][hapmap]
rs6686001	1.00[YRI][hapmap]
rs7412460	0.91[CHB][hapmap];0.80[JPT][hapmap];0.81[ASN][1000 genomes]
rs74124931	0.81[ASN][1000 genomes]
rs74124945	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74127624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74127629	0.81[ASN][1000 genomes]
rs74127630	0.81[ASN][1000 genomes]
rs74127635	0.81[ASN][1000 genomes]
rs74127636	0.81[ASN][1000 genomes]
rs74127640	0.99[ASN][1000 genomes]
rs74127656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9330294	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs9970904	0.91[CHB][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432986	chr1:161221133-161673682	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1010776	chr1:161282384-161409218	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv432998	chr1:161335902-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv872493	chr1:161339060-161413794	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv433009	chr1:161343927-161639328	Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv1005812	chr1:161343951-161548101	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv535182	chr1:161343951-161548101	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	esv2756866	chr1:161344255-161681552	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
9	esv2758972	chr1:161344255-161681552	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
10	nsv998957	chr1:161353351-161398414	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv433020	chr1:161355634-161673682	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
12	esv2754329	chr1:161355728-161673682	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
13	nsv433031	chr1:161355728-161673682	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161359200-161360800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:161359200-161360800	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:161359200-161360800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:161359200-161360800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:161359200-161360800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:161359200-161360800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:161359200-161360800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:161359200-161360800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr1:161359200-161360800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:161359200-161360800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:161359200-161360800	Active TSS	Psoas Muscle	Psoas
12	chr1:161359200-161360800	Active TSS	Right Ventricle	heart
13	chr1:161359200-161360800	Active TSS	HSMM	muscle
14	chr1:161359200-161360800	Active TSS	HSMMtube	muscle
15	chr1:161359200-161361000	Active TSS	Brain Angular Gyrus	brain
16	chr1:161359200-161361000	Active TSS	Brain Anterior Caudate	brain
17	chr1:161359200-161361200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:161359200-161361200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:161359400-161360800	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:161359400-161360800	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:161359400-161360800	Active TSS	Right Atrium	heart
22	chr1:161359400-161361000	Active TSS	A549	lung
23	chr1:161359600-161360800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:161360000-161360800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:161360000-161360800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr1:161360200-161360800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr1:161360200-161360800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr1:161360200-161360800	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr1:161360200-161360800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr1:161360200-161360800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr1:161360200-161360800	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr1:161360200-161360800	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr1:161360200-161360800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:161360200-161360800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:161360200-161360800	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr1:161360200-161360800	Flanking Active TSS	Hela-S3	cervix
37	chr1:161360200-161360800	Flanking Active TSS	HMEC	breast
38	chr1:161360200-161360800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:161360200-161361000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:161360200-161361000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr1:161360200-161361000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr1:161360200-161361000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr1:161360200-161361000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:161360200-161361000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:161360400-161360800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:161360400-161360800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:161360400-161360800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:161360400-161360800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr1:161360400-161360800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr1:161360400-161360800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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