Variant report

Variant	rs12532062
Chromosome Location	chr7:104659216-104659217
allele	G/T
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	MXI1	chr7:104649971-104659449	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr7:104658613-104659453	K562	blood:	n/a	n/a
3	STAT3	chr7:104659081-104659270	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104657462..104660168-chr7:104700800..104703508,2	K562	blood:
2	chr7:104658414..104660571-chr7:104698662..104700475,2	K562	blood:
3	chr7:104524458..104526068-chr7:104657025..104659232,2	K562	blood:
4	chr7:104656560..104659427-chr7:104771652..104774442,2	K562	blood:

Variant related genes	Relation type
KMT2E-AS1	TF binding region
ENSG00000005483	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:111)

rs_ID	r²[population]
rs1013016	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1019040	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs10224526	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10231782	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10231975	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10241374	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes]
rs10242713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244764	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10245589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10245676	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10245796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10249746	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10249965	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10253962	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10260346	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10261472	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10261573	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10264273	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10269027	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10274607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10276583	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10279486	0.86[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279602	0.90[EUR][1000 genomes]
rs10280009	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10280470	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10280752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808140	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10953466	0.84[EUR][1000 genomes]
rs10953467	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11971732	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11973516	0.93[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes]
rs11976329	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11981399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12171585	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12531424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532456	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12534140	1.00[CEU][hapmap];0.82[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12540007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12667625	0.86[EUR][1000 genomes]
rs12671368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12705297	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12705299	0.89[EUR][1000 genomes]
rs13230660	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13237370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1859786	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1967301	0.80[AMR][1000 genomes]
rs1978201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2011258	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2058711	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2214928	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2216107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2237602	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237604	0.87[EUR][1000 genomes]
rs2237605	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237606	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2237610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2240453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2240454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240455	0.93[CEU][hapmap];0.81[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2240457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2240465	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2285532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2299297	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs2299299	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2385542	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28434158	0.86[EUR][1000 genomes]
rs28489493	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2891761	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3173872	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3213676	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3213741	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34202980	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34558707	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35418021	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs35780942	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3735377	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3779208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3815256	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4730065	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730067	1.00[CEU][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4730068	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730069	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4730071	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap]
rs6466043	0.85[AMR][1000 genomes]
rs6466045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AMR][1000 genomes]
rs67739707	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6952534	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6971241	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6972229	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71562633	0.84[EUR][1000 genomes]
rs740297	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7780887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7785197	1.00[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7800233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7805792	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7808168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7810119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7811349	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs875567	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs875568	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs916704	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs960437	0.93[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9641340	0.82[CEU][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9641341	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs999895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][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	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104649400-104659400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr7:104649600-104659600	Active TSS	NHLF	lung
3	chr7:104650800-104660800	Active TSS	GM12878-XiMat	blood
4	chr7:104651000-104660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:104656200-104659800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:104656200-104660200	Weak transcription	Lung	lung
7	chr7:104656200-104667800	Weak transcription	Gastric	stomach
8	chr7:104656400-104659400	Flanking Active TSS	Dnd41	blood
9	chr7:104656400-104660200	Weak transcription	Pancreas	Pancrea
10	chr7:104656600-104659400	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr7:104656600-104659800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:104656600-104681800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:104656800-104667600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:104657000-104659400	Flanking Active TSS	NHEK	skin
15	chr7:104657800-104660000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:104657800-104660000	Weak transcription	Small Intestine	intestine
17	chr7:104658000-104659800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:104658000-104660200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:104658000-104660200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:104658400-104659600	Enhancers	Fetal Lung	lung
21	chr7:104658400-104659800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:104658400-104660200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:104658400-104660800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:104658400-104661600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:104658400-104661600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:104658400-104663600	Enhancers	Fetal Brain Male	brain
27	chr7:104658600-104659400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:104658600-104659400	Enhancers	Fetal Kidney	kidney
29	chr7:104658600-104659600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:104658600-104659600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:104658600-104659600	Weak transcription	Adipose Nuclei	Adipose
32	chr7:104658600-104659600	Weak transcription	Brain Angular Gyrus	brain
33	chr7:104658600-104659600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:104658600-104659600	Weak transcription	Brain Hippocampus Middle	brain
35	chr7:104658600-104659600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:104658600-104659600	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:104658600-104659800	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr7:104658600-104659800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr7:104658600-104660000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:104658600-104660000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr7:104658600-104660000	Enhancers	Brain Anterior Caudate	brain
42	chr7:104658600-104660000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:104658600-104660000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:104658600-104660200	Enhancers	Colon Smooth Muscle	Colon
45	chr7:104658600-104660200	Weak transcription	Left Ventricle	heart
46	chr7:104658600-104660200	Weak transcription	Psoas Muscle	Psoas
47	chr7:104658600-104660200	Weak transcription	Hela-S3	cervix
48	chr7:104658600-104660400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr7:104658600-104660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr7:104658600-104661200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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