Variant report

Variant	rs6682291
Chromosome Location	chr1:154732776-154732777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154641878..154642911-chr1:154732624..154733435,5	MCF-7	breast:
2	chr1:154531670..154532759-chr1:154732301..154733673,8	MCF-7	breast:
3	chr1:154641926..154642819-chr1:154732598..154733486,7	MCF-7	breast:
4	chr1:154532149..154532898-chr1:154732612..154733164,2	K562	blood:
5	chr1:154731200..154733874-chr1:154738187..154740099,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1131820	1.00[CHB][hapmap]
rs2981414	0.87[AFR][1000 genomes]
rs57482361	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67895022	0.82[EUR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6682291	POU5F1P4	cis	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154717000-154732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154724200-154732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:154724400-154732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:154724600-154732800	Weak transcription	Fetal Brain Female	brain
5	chr1:154724800-154732800	Weak transcription	Brain Anterior Caudate	brain
6	chr1:154724800-154732800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:154724800-154733000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:154727800-154733000	Weak transcription	Psoas Muscle	Psoas
9	chr1:154728000-154732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:154729200-154732800	Weak transcription	Right Ventricle	heart
11	chr1:154730000-154732800	Weak transcription	Right Atrium	heart
12	chr1:154730000-154733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:154730800-154732800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:154730800-154732800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr1:154731000-154732800	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:154731000-154732800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr1:154731000-154732800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:154731000-154733000	Enhancers	Left Ventricle	heart
19	chr1:154731400-154733200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr1:154731600-154732800	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:154731600-154732800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:154731600-154732800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr1:154731600-154732800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:154731600-154732800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:154731600-154732800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:154731600-154732800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr1:154731600-154733000	Enhancers	Spleen	Spleen
28	chr1:154731800-154732800	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr1:154731800-154733600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:154732000-154732800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:154732000-154732800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
32	chr1:154732000-154732800	Weak transcription	Esophagus	oesophagus
33	chr1:154732000-154733200	Bivalent Enhancer	Fetal Thymus	thymus
34	chr1:154732200-154732800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:154732200-154732800	Bivalent Enhancer	Thymus	Thymus
36	chr1:154732200-154733000	Weak transcription	Lung	lung
37	chr1:154732200-154733000	Enhancers	GM12878-XiMat	blood
38	chr1:154732400-154732800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr1:154732400-154733400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr1:154732600-154732800	Bivalent Enhancer	Primary B cells from cord blood	blood
41	chr1:154732600-154732800	Enhancers	Primary hematopoietic stem cells	blood
42	chr1:154732600-154732800	Enhancers	Pancreas	Pancrea
43	chr1:154732600-154733000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr1:154732600-154733000	Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr1:154732600-154733200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr1:154732600-154733200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:154732600-154733600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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