Variant report

Variant	rs3808112
Chromosome Location	chr7:127295676-127295677
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr7:127294993-127295745	HL-60	blood:	n/a	chr7:127295252-127295265 chr7:127295254-127295261 chr7:127295485-127295498
2	POLR2A	chr7:127295546-127295744	MCF10A-Er-Src	breast:	n/a	n/a
3	GATA1	chr7:127295482-127296165	PBDE	blood:	n/a	chr7:127295960-127295977

No.	Distal block	Cell Line	Cell type
1	chr7:127295122..127296955-chr7:127306718..127309391,2	MCF-7	breast:
2	chr7:127223375..127232960-chr7:127286940..127295803,24	K562	blood:
3	chr7:127029926..127034103-chr7:127290516..127296284,10	K562	blood:

Variant related genes	Relation type
ENSG00000240790	TF binding region
ENSG00000106328	Chromatin interaction
ENSG00000004059	Chromatin interaction
ENSG00000048405	Chromatin interaction
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10251423	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10251548	0.86[EUR][1000 genomes]
rs1029927	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10954163	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11521053	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11971935	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11972774	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11976841	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11976946	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977012	0.96[ASN][1000 genomes]
rs11977915	0.96[ASN][1000 genomes]
rs11980318	0.96[ASN][1000 genomes]
rs12531440	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533846	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12539728	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12540865	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13236900	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13237048	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs141450	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16885524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151241	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17151270	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17716738	0.96[ASN][1000 genomes]
rs17718395	0.85[ASN][1000 genomes]
rs1860934	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1881084	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2014583	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2016786	0.92[EUR][1000 genomes]
rs2043982	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119452	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119453	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2141259	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402866	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402867	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402870	0.92[EUR][1000 genomes]
rs325440	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs325442	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325444	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325445	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325446	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325447	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs325451	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs327518	0.83[ASN][1000 genomes]
rs35121681	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35176520	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35940771	0.92[EUR][1000 genomes]
rs35971861	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779529	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3779530	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808092	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3808093	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808095	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808097	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3808105	0.96[ASN][1000 genomes]
rs3808106	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728077	0.96[ASN][1000 genomes]
rs4731376	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731378	0.92[EUR][1000 genomes]
rs55694225	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56306023	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58583807	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6467145	0.92[EUR][1000 genomes]
rs6961381	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6963455	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6968199	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6969880	0.87[EUR][1000 genomes]
rs712712	0.97[EUR][1000 genomes]
rs712716	0.98[EUR][1000 genomes]
rs73234861	0.96[ASN][1000 genomes]
rs73234862	0.96[ASN][1000 genomes]
rs73234880	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234882	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73234897	0.85[ASN][1000 genomes]
rs741599	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759843	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7785050	0.88[EUR][1000 genomes]
rs7797663	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7799882	0.92[EUR][1000 genomes]
rs917832	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs918793	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs972088	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972089	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs972090	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats 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	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127292800-127296200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:127293000-127296200	Enhancers	Fetal Heart	heart
3	chr7:127293000-127296400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:127293000-127304000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:127293200-127296000	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:127293200-127296000	Enhancers	Stomach Mucosa	stomach
7	chr7:127293200-127296200	Enhancers	Small Intestine	intestine
8	chr7:127293200-127296400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr7:127293200-127296800	Enhancers	Left Ventricle	heart
10	chr7:127293200-127302200	Weak transcription	Aorta	Aorta
11	chr7:127293200-127304200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:127293200-127306000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:127293200-127306000	Weak transcription	Fetal Brain Female	brain
14	chr7:127293200-127322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr7:127293200-127326600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:127293400-127295800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:127293400-127296000	Transcr. at gene 5' and 3'	K562	blood
18	chr7:127293400-127296200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr7:127293600-127296000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:127293600-127296000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:127293600-127296200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr7:127293600-127297200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:127293800-127296600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr7:127293800-127297400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
25	chr7:127294000-127296400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:127294200-127296000	Weak transcription	Brain Germinal Matrix	brain
27	chr7:127294200-127296000	Weak transcription	Fetal Intestine Small	intestine
28	chr7:127294200-127296200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:127294200-127296200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:127294200-127296200	Enhancers	Psoas Muscle	Psoas
31	chr7:127294200-127299000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr7:127294400-127301600	Weak transcription	Fetal Brain Male	brain
33	chr7:127294600-127296000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr7:127294600-127296000	Weak transcription	Lung	lung
35	chr7:127294600-127296200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr7:127294600-127296200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:127294600-127296200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:127294600-127296400	Weak transcription	Fetal Stomach	stomach
39	chr7:127294600-127307400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:127294800-127295800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr7:127294800-127295800	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:127294800-127296800	Weak transcription	Fetal Intestine Large	intestine
43	chr7:127294800-127297600	Weak transcription	Placenta	Placenta
44	chr7:127294800-127306200	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:127294800-127307400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:127294800-127327400	Weak transcription	Fetal Kidney	kidney
47	chr7:127295000-127295800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr7:127295000-127295800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr7:127295000-127296000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:127295000-127296000	Weak transcription	Pancreas	Pancrea

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