Variant report

Variant	rs67739707
Chromosome Location	chr7:104657444-104657445
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	POLR2A	chr7:104657396-104657809	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:104649871-104658724	K562	blood:	n/a	n/a
3	REST	chr7:104652414-104658680	H1-neurons	neurons:	n/a	chr7:104655971-104655980 chr7:104655344-104655354 chr7:104653526-104653539
4	POLR2A	chr7:104657009-104657619	IMR90	lung:	n/a	n/a
5	IRF1	chr7:104651664-104657495	K562	blood:	n/a	chr7:104652192-104652212 chr7:104653598-104653607 chr7:104657052-104657069 chr7:104656077-104656087 chr7:104652632-104652642 chr7:104653674-104653687 chr7:104657055-104657068 chr7:104652628-104652642 chr7:104651982-104651994
6	MXI1	chr7:104649971-104659449	SK-N-SH	brain:	n/a	n/a
7	CHD1	chr7:104650096-104658695	IMR90	lung:	n/a	n/a
8	TBL1XR1	chr7:104655151-104658648	K562	blood:	n/a	n/a
9	ARID3A	chr7:104655680-104658095	K562	blood:	n/a	n/a
10	FOS	chr7:104657229-104657465	MCF10A-Er-Src	breast:	n/a	n/a
11	KAP1	chr7:104656073-104657581	K562	blood:	n/a	n/a
12	FOS	chr7:104657267-104657524	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr7:104657167-104657522	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104656084..104658297-chr7:104716625..104719072,2	K562	blood:
2	chr7:104656560..104659009-chr7:104771324..104773152,2	K562	blood:
3	chr7:104656538..104658551-chr7:104696151..104698175,2	K562	blood:
4	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
5	chr7:104524458..104526068-chr7:104657025..104659232,2	K562	blood:
6	chr7:104656560..104659427-chr7:104771652..104774442,2	K562	blood:

Variant related genes	Relation type
KMT2E-AS1	TF binding region
LINC01004	TF binding region
ENSG00000005483	Chromatin interaction
ENSG00000135250	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs1013016	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1019040	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10224526	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10231782	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10231975	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10241374	0.86[EUR][1000 genomes]
rs10242713	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10244764	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10245589	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10245676	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10245796	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[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	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10260346	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10261472	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10261573	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10264273	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10268866	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10274607	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10276583	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10279486	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279602	0.90[EUR][1000 genomes]
rs10280009	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10280752	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808139	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10808140	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10953464	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10953466	0.84[EUR][1000 genomes]
rs10953467	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1143	0.81[ASN][1000 genomes]
rs11971732	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11973516	0.82[AMR][1000 genomes]
rs11976329	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11981399	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12171585	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12531424	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12532062	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12532456	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12534140	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12540007	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12667625	0.86[EUR][1000 genomes]
rs12671368	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705297	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12705299	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13230660	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1967301	0.80[AMR][1000 genomes]
rs2011258	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2058711	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2216107	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237602	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237604	0.87[EUR][1000 genomes]
rs2237605	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2240453	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2240454	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2240455	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2240457	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2285532	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2299299	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28434158	0.86[EUR][1000 genomes]
rs28489493	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2891761	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3173872	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3213676	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3213741	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34202980	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34558707	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35418021	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35780942	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3735377	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3815256	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4730065	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4730067	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4730068	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4730069	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6466043	0.85[AMR][1000 genomes]
rs6466045	0.82[AMR][1000 genomes]
rs6952534	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6972229	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71562633	0.84[EUR][1000 genomes]
rs740297	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740298	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs740300	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785197	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7800233	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7805792	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7810119	0.90[EUR][1000 genomes];0.86[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	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs916704	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs960437	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9641340	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9641341	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs999895	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[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	chr7:104648600-104658800	Active TSS	Ovary	ovary
2	chr7:104649200-104659000	Active TSS	Right Ventricle	heart
3	chr7:104649400-104658800	Active TSS	Aorta	Aorta
4	chr7:104649400-104659400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:104649600-104658600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:104649600-104658800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:104649600-104659600	Active TSS	NHLF	lung
8	chr7:104649800-104657600	Active TSS	Fetal Stomach	stomach
9	chr7:104649800-104657600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr7:104649800-104658200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:104649800-104658600	Active TSS	Left Ventricle	heart
12	chr7:104650000-104658000	Active TSS	Duodenum Mucosa	Duodenum
13	chr7:104650000-104658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:104650000-104658600	Active TSS	Psoas Muscle	Psoas
15	chr7:104650200-104658000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:104650400-104657800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr7:104650600-104658800	Active TSS	Primary T cells fromperipheralblood	blood
18	chr7:104650800-104657600	Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr7:104650800-104660800	Active TSS	GM12878-XiMat	blood
20	chr7:104651000-104657600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr7:104651000-104658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:104651000-104658200	Active TSS	HSMMtube	muscle
23	chr7:104651000-104658400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:104651000-104660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:104651200-104657600	Active TSS	Brain Angular Gyrus	brain
26	chr7:104651200-104657600	Active TSS	Brain Anterior Caudate	brain
27	chr7:104651200-104657600	Active TSS	Brain Hippocampus Middle	brain
28	chr7:104651200-104657600	Active TSS	Fetal Muscle Leg	muscle
29	chr7:104651200-104658600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:104651400-104657600	Active TSS	Stomach Mucosa	stomach
31	chr7:104651400-104657800	Active TSS	Muscle Satellite Cultured Cells	--
32	chr7:104651400-104658200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:104651400-104658200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:104651400-104658400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr7:104651400-104658800	Active TSS	NHDF-Ad	bronchial
36	chr7:104651600-104657600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:104651600-104657600	Active TSS	Fetal Kidney	kidney
38	chr7:104651600-104658200	Active TSS	Brain Inferior Temporal Lobe	brain
39	chr7:104651600-104658200	Active TSS	Brain Substantia Nigra	brain
40	chr7:104651600-104659200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:104652000-104657600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:104652000-104657600	Active TSS	Brain Cingulate Gyrus	brain
43	chr7:104653000-104657600	Active TSS	K562	blood
44	chr7:104653200-104658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:104653800-104658400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
46	chr7:104654400-104657800	Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr7:104654400-104658600	Active TSS	Stomach Smooth Muscle	stomach
48	chr7:104655000-104658800	Active TSS	Right Atrium	heart
49	chr7:104655200-104658400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:104655400-104658200	Active TSS	Skeletal Muscle Male	skeletal muscle

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