Variant report

Variant	rs6466043
Chromosome Location	chr7:104764977-104764978
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:104763430..104769155-chr7:104770019..104777635,10	K562	blood:
2	chr7:104764850..104767272-chr7:104775405..104777635,2	K562	blood:
3	chr7:104763670..104767033-chr7:104769118..104772406,3	MCF-7	breast:
4	chr7:104652544..104654561-chr7:104764865..104766776,2	K562	blood:

Variant related genes	Relation type
ENSG00000135250	Chromatin interaction
ENSG00000228393	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1013016	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1019040	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10231975	0.85[AMR][1000 genomes]
rs10242713	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10245589	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10245796	0.85[AMR][1000 genomes]
rs10253962	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10260346	0.88[ASN][1000 genomes]
rs10264273	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10269027	0.82[EUR][1000 genomes]
rs10276583	0.85[AMR][1000 genomes]
rs10280009	0.88[AMR][1000 genomes]
rs10280752	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10808139	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10808140	0.83[AMR][1000 genomes]
rs10953464	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10953467	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1143	0.96[ASN][1000 genomes]
rs11976329	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11981399	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12171585	0.80[AMR][1000 genomes]
rs12531424	0.85[ASN][1000 genomes]
rs12532062	0.85[AMR][1000 genomes]
rs12532456	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12540007	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12667625	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12671368	0.88[ASN][1000 genomes]
rs12705297	0.87[ASN][1000 genomes]
rs12705299	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1859786	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1967301	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214928	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237602	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237604	0.86[AMR][1000 genomes]
rs2237605	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237606	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237607	0.81[EUR][1000 genomes]
rs2237608	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2237610	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2240453	0.87[ASN][1000 genomes]
rs2240454	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2240455	0.80[AMR][1000 genomes]
rs2240457	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2240465	0.90[ASN][1000 genomes]
rs2283016	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285532	0.85[AMR][1000 genomes]
rs2299299	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28434158	0.86[AMR][1000 genomes]
rs28489493	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3173872	0.85[AMR][1000 genomes]
rs3213676	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3213741	0.85[AMR][1000 genomes]
rs34202980	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35418021	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35780942	0.82[AMR][1000 genomes]
rs3815256	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730069	0.88[ASN][1000 genomes]
rs4730071	0.81[EUR][1000 genomes]
rs6466044	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6466045	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6466046	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67739707	0.85[AMR][1000 genomes]
rs6944847	0.82[AMR][1000 genomes]
rs6952534	0.88[ASN][1000 genomes]
rs740298	0.82[AMR][1000 genomes]
rs757958	0.92[AMR][1000 genomes]
rs7780887	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7783812	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7787448	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7805792	0.87[ASN][1000 genomes]
rs7810119	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9641340	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9641341	0.80[AMR][1000 genomes]
rs999895	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[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	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
2	esv34588	chr7:104737612-105153242	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv8196	chr7:104763559-105155978	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv34580	chr7:104763580-105153242	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104678000-104812200	Strong transcription	Dnd41	blood
2	chr7:104740400-104787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:104750200-104777000	Weak transcription	Right Atrium	heart
4	chr7:104752800-104807400	Weak transcription	Fetal Brain Male	brain
5	chr7:104753600-104768000	Weak transcription	Psoas Muscle	Psoas
6	chr7:104753800-104765800	Weak transcription	Right Ventricle	heart
7	chr7:104753800-104766200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:104753800-104766200	Weak transcription	Gastric	stomach
9	chr7:104753800-104768400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:104753800-104772200	Weak transcription	Aorta	Aorta
11	chr7:104753800-104772800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:104753800-104776600	Weak transcription	Stomach Mucosa	stomach
13	chr7:104753800-104822000	Weak transcription	Small Intestine	intestine
14	chr7:104754400-104776800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:104754400-104850400	Weak transcription	Fetal Kidney	kidney
16	chr7:104754800-104765800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:104755000-104772600	Weak transcription	Fetal Brain Female	brain
18	chr7:104755200-104767000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:104755200-104782000	Weak transcription	Colonic Mucosa	Colon
20	chr7:104755600-104776600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:104755600-104778200	Weak transcription	Hela-S3	cervix
22	chr7:104755600-104790400	Weak transcription	NH-A	brain
23	chr7:104756000-104765600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr7:104756200-104765800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr7:104756400-104779400	Weak transcription	A549	lung
26	chr7:104756400-104806600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:104757800-104765600	Weak transcription	HUVEC	blood vessel
28	chr7:104758600-104765800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:104758600-104765800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:104758600-104765800	Weak transcription	Placenta	Placenta
31	chr7:104758800-104765600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:104758800-104765800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:104758800-104765800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:104758800-104765800	Weak transcription	Liver	Liver
35	chr7:104759600-104765600	Weak transcription	Ovary	ovary
36	chr7:104759600-104766200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:104759800-104769200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:104759800-104788600	Strong transcription	Primary B cells from cord blood	blood
39	chr7:104760000-104766000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:104760000-104766400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:104760000-104773200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr7:104760200-104765600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:104760200-104767200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr7:104760200-104769800	Weak transcription	HSMMtube	muscle
45	chr7:104760200-104771800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:104760200-104772400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:104760400-104765800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr7:104760400-104776600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:104760400-104781800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:104760800-104781600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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