Variant report

Variant	rs8177997
Chromosome Location	chr1:155259019-155259020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155258950..155260585-chr1:155268243..155269943,2	MCF-7	breast:
2	chr1:155242307..155246012-chr1:155257653..155260333,3	MCF-7	breast:
3	chr1:155257657..155259293-chr1:155291088..155293098,2	MCF-7	breast:
4	chr1:155258490..155260000-chr1:155271609..155274167,2	K562	blood:

Variant related genes	Relation type
ENSG00000176444	Chromatin interaction
ENSG00000225855	Chromatin interaction
ENSG00000160753	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11465203	0.87[LWK][hapmap];1.00[AMR][1000 genomes]
rs11588849	1.00[MEX][hapmap]
rs12029944	1.00[MEX][hapmap]
rs2070679	1.00[AMR][1000 genomes]
rs59650797	1.00[AMR][1000 genomes]
rs6672663	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs6683706	1.00[AMR][1000 genomes]
rs6690002	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7519564	1.00[AMR][1000 genomes]
rs7527209	1.00[AMR][1000 genomes]
rs7529556	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs7531890	1.00[AMR][1000 genomes]
rs7536194	1.00[AMR][1000 genomes]
rs7554397	1.00[AMR][1000 genomes]
rs8177979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv831614	chr1:155094978-155275031	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	434 gene(s)	inside rSNPs	diseases
3	esv2757756	chr1:155094978-155314807	Bivalent Enhancer Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	452 gene(s)	inside rSNPs	diseases
4	esv2758971	chr1:155094978-155314807	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	452 gene(s)	inside rSNPs	diseases
5	nsv872457	chr1:155135335-155310443	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
6	nsv831625	chr1:155145634-155313409	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	407 gene(s)	inside rSNPs	diseases
7	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
8	esv1832331	chr1:155213136-155271366	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1826485	chr1:155214478-155264270	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	esv1824971	chr1:155215985-155260869	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
11	nsv831636	chr1:155219223-155444864	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
12	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
13	esv1832799	chr1:155226846-155261543	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	esv17013	chr1:155227059-155262674	Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
15	esv1797617	chr1:155228592-155264270	Genic enhancers Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	esv1829849	chr1:155228592-155264270	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription 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	34 gene(s)	inside rSNPs	diseases
17	esv1826500	chr1:155230444-155261567	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
18	esv1831471	chr1:155230444-155261567	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
19	esv1826924	chr1:155230444-155271566	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
20	esv1830821	chr1:155230610-155265661	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
21	esv1831955	chr1:155230610-155265661	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
22	esv1826761	chr1:155230622-155262613	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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	31 gene(s)	inside rSNPs	diseases
23	esv1826280	chr1:155230622-155262851	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
24	esv1832100	chr1:155230622-155269896	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
25	esv1830793	chr1:155230644-155261367	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
26	esv1827811	chr1:155230644-155271366	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
27	esv1827924	chr1:155230644-155271366	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
28	esv1826306	chr1:155232074-155261777	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
29	esv1832706	chr1:155232647-155261567	Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
30	esv1829673	chr1:155235493-155261280	Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
31	esv1831963	chr1:155239116-155267459	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
32	esv1830532	chr1:155239128-155267471	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
33	nsv932967	chr1:155258954-155259672	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8177997	YY1AP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155248200-155260600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:155248200-155261200	Weak transcription	Lung	lung
3	chr1:155248200-155262800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:155248400-155259200	Weak transcription	HSMMtube	muscle
5	chr1:155248400-155259600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:155248800-155259400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:155248800-155262000	Weak transcription	Fetal Lung	lung
8	chr1:155248800-155264800	Weak transcription	Pancreas	Pancrea
9	chr1:155249000-155262800	Weak transcription	Colonic Mucosa	Colon
10	chr1:155249200-155259400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:155249200-155260800	Weak transcription	NHEK	skin
12	chr1:155249200-155261200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:155249400-155263200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:155249400-155264800	Weak transcription	Brain Angular Gyrus	brain
15	chr1:155249600-155259800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:155249600-155260200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:155249600-155260800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:155249600-155261600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:155249600-155262600	Weak transcription	Fetal Brain Male	brain
20	chr1:155251000-155260200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:155251600-155260200	Strong transcription	Fetal Stomach	stomach
22	chr1:155251800-155260400	Strong transcription	Brain Germinal Matrix	brain
23	chr1:155252400-155261000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:155252600-155261000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:155252600-155262600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:155253000-155262800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:155253200-155261200	Weak transcription	K562	blood
28	chr1:155253800-155263000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:155254200-155259800	Weak transcription	Fetal Kidney	kidney
30	chr1:155254600-155260200	Weak transcription	Dnd41	blood
31	chr1:155254600-155260400	Strong transcription	Fetal Brain Female	brain
32	chr1:155254600-155263200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr1:155254600-155264400	Weak transcription	Spleen	Spleen
34	chr1:155254800-155259400	Weak transcription	Brain Anterior Caudate	brain
35	chr1:155254800-155259800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:155255200-155263200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:155255400-155263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:155255600-155261800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:155256400-155261600	Weak transcription	Fetal Muscle Trunk	muscle
40	chr1:155257000-155262800	Strong transcription	Fetal Intestine Small	intestine
41	chr1:155257800-155262600	Weak transcription	HepG2	liver
42	chr1:155258200-155263000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:155258400-155259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:155258400-155264600	Weak transcription	Esophagus	oesophagus
45	chr1:155258600-155260400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:155258600-155261800	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr1:155258600-155264400	Weak transcription	Gastric	stomach
48	chr1:155258800-155260400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:155258800-155261000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:155258800-155261200	Weak transcription	Ovary	ovary

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