Variant report

Variant	rs34969721
Chromosome Location	chr1:185065174-185065175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185062925..185066801-chr1:185070030..185072676,4	K562	blood:
2	chr1:185058459..185060634-chr1:185062466..185065281,2	MCF-7	breast:
3	chr1:185064872..185066724-chr1:185124561..185126369,2	MCF-7	breast:
4	chr1:185052742..185055562-chr1:185064799..185067162,2	MCF-7	breast:
5	chr1:185063165..185065327-chr1:185071778..185074754,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116668	Chromatin interaction
ENSG00000121486	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1053166	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10911679	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12119759	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12385701	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12408074	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12563135	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12566404	0.92[EUR][1000 genomes]
rs28609768	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34916432	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6677056	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6699626	0.86[EUR][1000 genomes]
rs7523448	0.93[EUR][1000 genomes]
rs7548237	0.86[EUR][1000 genomes]
rs950327	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv548396	chr1:185038104-185151378	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:185018400-185101800	Weak transcription	Fetal Brain Male	brain
4	chr1:185030200-185076600	Weak transcription	Gastric	stomach
5	chr1:185034800-185077000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:185037800-185065400	Weak transcription	HMEC	breast
7	chr1:185043600-185069400	Weak transcription	Pancreas	Pancrea
8	chr1:185044000-185065200	Weak transcription	NHEK	skin
9	chr1:185045000-185068800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:185046000-185066000	Weak transcription	Stomach Mucosa	stomach
11	chr1:185050000-185067200	Weak transcription	Fetal Heart	heart
12	chr1:185052000-185076200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:185052400-185074800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:185052800-185070800	Weak transcription	Small Intestine	intestine
15	chr1:185052800-185076600	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:185053200-185067200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:185053600-185070800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr1:185054000-185065400	Weak transcription	NHDF-Ad	bronchial
19	chr1:185054200-185073200	Weak transcription	Brain Anterior Caudate	brain
20	chr1:185054200-185073800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:185054400-185101800	Weak transcription	A549	lung
22	chr1:185054600-185068800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:185054800-185072400	Weak transcription	HepG2	liver
24	chr1:185055000-185070200	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:185055200-185067400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:185055200-185070200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:185055200-185076600	Weak transcription	Lung	lung
28	chr1:185055400-185067200	Weak transcription	GM12878-XiMat	blood
29	chr1:185055400-185069200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:185055400-185096200	Weak transcription	Hela-S3	cervix
31	chr1:185055600-185067200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr1:185055600-185067200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:185055800-185067200	Weak transcription	Spleen	Spleen
34	chr1:185056000-185076800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:185056200-185072400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:185056200-185074200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:185056200-185124200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:185056400-185065200	Strong transcription	Primary T cells from cord blood	blood
39	chr1:185056400-185065600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:185056400-185071400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:185056400-185073800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr1:185056400-185074000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr1:185056600-185069400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:185056600-185069800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr1:185056600-185074000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:185056600-185077000	Weak transcription	Thymus	Thymus
47	chr1:185056800-185065200	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:185057000-185065400	Weak transcription	HUVEC	blood vessel
49	chr1:185057200-185073400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr1:185057200-185074000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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