Variant report

Variant	rs73041500
Chromosome Location	chr6:167372361-167372362
allele	A/G
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	FOXA1	chr6:167372303-167373199	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:167372240-167373286	GM12878	blood:	n/a	n/a
3	POLR2A	chr6:167372337-167373242	GM12878	blood:	n/a	n/a
4	SPI1	chr6:167371956-167372685	GM12891	blood:	n/a	n/a
5	MTA3	chr6:167372216-167373825	GM12878	blood:	n/a	n/a
6	POLR2A	chr6:167372322-167373233	GM12892	blood:	n/a	n/a
7	CBX3	chr6:167372314-167373094	K562	blood:	n/a	n/a
8	SPI1	chr6:167371714-167373302	GM12878	blood:	n/a	chr6:167372969-167372978 chr6:167373237-167373250
9	EP300	chr6:167372348-167373207	HepG2	liver:	n/a	chr6:167372973-167372982 chr6:167372909-167372918 chr6:167372969-167372983
10	SPI1	chr6:167371951-167372552	GM12891	blood:	n/a	n/a
11	POLR2A	chr6:167369741-167373327	HepG2	liver:	n/a	n/a
12	TEAD4	chr6:167371754-167372693	HepG2	liver:	n/a	n/a
13	SPI1	chr6:167372346-167372618	GM12878	blood:	n/a	n/a
14	POLR2A	chr6:167368758-167373878	GM12891	blood:	n/a	n/a
15	HEY1	chr6:167368760-167373820	HepG2	liver:	n/a	chr6:167369448-167369463 chr6:167369857-167369872 chr6:167369766-167369781
16	POLR2A	chr6:167372341-167373061	GM12891	blood:	n/a	n/a
17	NFIC	chr6:167372306-167373107	HepG2	liver:	n/a	n/a
18	POLR2A	chr6:167372341-167373380	GM12878	blood:	n/a	n/a
19	POLR2A	chr6:167372337-167373098	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:167372339-167373306	GM12892	blood:	n/a	n/a
21	NFIC	chr6:167372225-167373235	HepG2	liver:	n/a	n/a
22	FOXA1	chr6:167372339-167373212	HepG2	liver:	n/a	n/a
23	PML	chr6:167372332-167373299	GM12878	blood:	n/a	n/a
24	MBD4	chr6:167372217-167372961	HepG2	liver:	n/a	n/a
25	MYBL2	chr6:167371388-167373307	HepG2	liver:	n/a	n/a
26	CREB1	chr6:167372284-167373306	HepG2	liver:	n/a	n/a
27	MBD4	chr6:167372218-167373261	HepG2	liver:	n/a	n/a
28	POLR2A	chr6:167372322-167373296	GM12892	blood:	n/a	n/a
29	FOXA1	chr6:167372338-167373173	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:167372357-167373035	GM12891	blood:	n/a	n/a
31	POLR2A	chr6:167372354-167373222	GM12892	blood:	n/a	n/a
32	POLR2A	chr6:167372224-167373328	HepG2	liver:	n/a	n/a
33	POLR2A	chr6:167369479-167373352	HepG2	liver:	n/a	n/a
34	HEY1	chr6:167372335-167372706	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167367121..167370566-chr6:167371148..167375087,4	K562	blood:
2	chr6:167370784..167372453-chr6:167373625..167375404,2	K562	blood:
3	chr6:167372022..167374249-chr6:167383520..167385172,2	K562	blood:
4	chr6:167364990..167367805-chr6:167369090..167372947,3	K562	blood:
5	chr6:167368436..167372370-chr6:167409956..167415121,7	MCF-7	breast:
6	chr6:167368539..167373039-chr6:167409933..167412837,4	MCF-7	breast:

Variant related genes	Relation type
RNASET2	TF binding region
ENSG00000249141	TF binding region
ENSG00000272980	Chromatin interaction
ENSG00000249141	Chromatin interaction
ENSG00000026297	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000265828	Chromatin interaction
ENSG00000227598	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:123)

rs_ID	r²[population]
rs12212326	0.92[ASN][1000 genomes]
rs16899770	0.89[EUR][1000 genomes]
rs16899771	0.89[EUR][1000 genomes]
rs16899781	0.89[EUR][1000 genomes]
rs16899788	0.89[EUR][1000 genomes]
rs16899799	0.89[EUR][1000 genomes]
rs16899801	0.89[EUR][1000 genomes]
rs16899811	0.89[EUR][1000 genomes]
rs16899812	0.89[EUR][1000 genomes]
rs16899821	0.89[EUR][1000 genomes]
rs16899825	0.89[EUR][1000 genomes]
rs16899828	0.89[EUR][1000 genomes]
rs16899831	0.89[EUR][1000 genomes]
rs16899833	0.89[EUR][1000 genomes]
rs16899835	0.89[EUR][1000 genomes]
rs16899837	1.00[AFR][1000 genomes]
rs17856382	0.89[EUR][1000 genomes]
rs2273746	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2282859	0.89[EUR][1000 genomes]
rs2301437	0.89[EUR][1000 genomes]
rs34585172	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs3752519	0.89[EUR][1000 genomes]
rs375883	0.91[ASN][1000 genomes]
rs3798305	0.83[EUR][1000 genomes]
rs3798308	0.89[EUR][1000 genomes]
rs3798309	0.89[EUR][1000 genomes]
rs3798310	0.89[EUR][1000 genomes]
rs3798311	0.89[EUR][1000 genomes]
rs3798312	0.89[EUR][1000 genomes]
rs3798313	0.89[EUR][1000 genomes]
rs3822914	0.89[EUR][1000 genomes]
rs388036	0.91[ASN][1000 genomes]
rs41269603	0.89[EUR][1000 genomes]
rs41269605	0.89[EUR][1000 genomes]
rs41269607	0.89[EUR][1000 genomes]
rs414431	0.91[ASN][1000 genomes]
rs415356	0.87[ASN][1000 genomes]
rs425145	0.91[ASN][1000 genomes]
rs435359	0.91[ASN][1000 genomes]
rs56028052	0.89[EUR][1000 genomes]
rs56266102	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61751042	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6905912	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6907391	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6907735	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6922071	0.89[EUR][1000 genomes]
rs73024229	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73024302	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73026203	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs73026206	0.89[EUR][1000 genomes]
rs73026207	0.89[EUR][1000 genomes]
rs73026210	0.89[EUR][1000 genomes]
rs73026212	0.89[EUR][1000 genomes]
rs73026214	0.89[EUR][1000 genomes]
rs73026216	0.89[EUR][1000 genomes]
rs73026224	0.89[EUR][1000 genomes]
rs73026225	0.89[EUR][1000 genomes]
rs73026226	0.89[EUR][1000 genomes]
rs73026230	0.89[EUR][1000 genomes]
rs73026236	0.89[EUR][1000 genomes]
rs73026238	0.89[EUR][1000 genomes]
rs73026240	0.89[EUR][1000 genomes]
rs73026241	0.89[EUR][1000 genomes]
rs73026247	0.89[EUR][1000 genomes]
rs73026249	0.89[EUR][1000 genomes]
rs73026251	0.89[EUR][1000 genomes]
rs73028276	0.89[EUR][1000 genomes]
rs73028277	0.89[EUR][1000 genomes]
rs73028283	0.89[EUR][1000 genomes]
rs73028285	0.89[EUR][1000 genomes]
rs73028286	0.89[EUR][1000 genomes]
rs73028287	0.89[EUR][1000 genomes]
rs73028288	0.89[EUR][1000 genomes]
rs73028290	0.89[EUR][1000 genomes]
rs73028292	0.89[EUR][1000 genomes]
rs73028293	0.89[EUR][1000 genomes]
rs73028295	0.89[EUR][1000 genomes]
rs73028297	0.89[EUR][1000 genomes]
rs73028298	0.89[EUR][1000 genomes]
rs73028301	0.89[EUR][1000 genomes]
rs73030105	0.89[EUR][1000 genomes]
rs73030106	0.89[EUR][1000 genomes]
rs73030108	0.89[EUR][1000 genomes]
rs73030112	0.89[EUR][1000 genomes]
rs73030117	0.89[EUR][1000 genomes]
rs73030122	0.89[EUR][1000 genomes]
rs73030125	0.89[EUR][1000 genomes]
rs73030128	0.89[EUR][1000 genomes]
rs73030129	0.89[EUR][1000 genomes]
rs73031587	0.89[EUR][1000 genomes]
rs73031588	0.89[EUR][1000 genomes]
rs73031589	0.89[EUR][1000 genomes]
rs73031596	0.89[EUR][1000 genomes]
rs73033003	0.89[EUR][1000 genomes]
rs73033006	0.84[EUR][1000 genomes]
rs73033009	0.89[EUR][1000 genomes]
rs73033012	0.89[EUR][1000 genomes]
rs73033013	0.89[EUR][1000 genomes]
rs73033017	0.89[EUR][1000 genomes]
rs73033024	0.89[EUR][1000 genomes]
rs73033025	0.89[EUR][1000 genomes]
rs73033027	0.89[EUR][1000 genomes]
rs73033031	0.89[EUR][1000 genomes]
rs73033033	0.89[EUR][1000 genomes]
rs73033036	0.89[EUR][1000 genomes]
rs73033038	0.89[EUR][1000 genomes]
rs73035055	0.89[EUR][1000 genomes]
rs73035056	0.89[EUR][1000 genomes]
rs73035058	0.89[EUR][1000 genomes]
rs73035084	1.00[AFR][1000 genomes]
rs73035085	1.00[AFR][1000 genomes]
rs73035091	1.00[AFR][1000 genomes]
rs73037103	1.00[AFR][1000 genomes]
rs73041488	0.83[EUR][1000 genomes]
rs73041490	0.83[EUR][1000 genomes]
rs73041494	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73043118	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73043122	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73043135	0.83[EUR][1000 genomes]
rs73043163	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73789707	0.83[EUR][1000 genomes]
rs7744664	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9459815	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	19 gene(s)	inside rSNPs	diseases
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167370200-167373800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr6:167370400-167373400	Weak transcription	Fetal Kidney	kidney
3	chr6:167370800-167373400	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr6:167371000-167372400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr6:167371000-167372400	Weak transcription	HUVEC	blood vessel
6	chr6:167371000-167372800	Weak transcription	NH-A	brain
7	chr6:167371000-167373600	Enhancers	Fetal Stomach	stomach
8	chr6:167371000-167373800	Enhancers	Spleen	Spleen
9	chr6:167371200-167372400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:167371200-167372400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr6:167371200-167372400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:167371200-167372400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr6:167371200-167372400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr6:167371200-167372400	Weak transcription	Small Intestine	intestine
15	chr6:167371200-167372400	Enhancers	Dnd41	blood
16	chr6:167371200-167372600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:167371200-167372600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:167371200-167372600	Enhancers	Colonic Mucosa	Colon
19	chr6:167371200-167372600	Enhancers	Fetal Intestine Large	intestine
20	chr6:167371200-167372600	Enhancers	Fetal Thymus	thymus
21	chr6:167371200-167373000	Weak transcription	Brain Germinal Matrix	brain
22	chr6:167371200-167373200	Weak transcription	Brain Hippocampus Middle	brain
23	chr6:167371200-167373400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr6:167371200-167373400	Weak transcription	Osteobl	bone
25	chr6:167371200-167374400	Enhancers	Stomach Mucosa	stomach
26	chr6:167371400-167372400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:167371400-167372400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:167371400-167372400	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:167371400-167372400	Enhancers	Primary T cells from cord blood	blood
30	chr6:167371400-167372400	Enhancers	Primary hematopoietic stem cells	blood
31	chr6:167371400-167372400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:167371400-167372400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:167371400-167372400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr6:167371400-167372400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:167371400-167372400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr6:167371400-167372400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr6:167371400-167372400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr6:167371400-167372400	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr6:167371400-167372400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr6:167371400-167372400	Enhancers	Thymus	Thymus
41	chr6:167371400-167372600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr6:167371400-167372600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:167371400-167372600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr6:167371400-167372600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr6:167371400-167372600	Weak transcription	Adipose Nuclei	Adipose
46	chr6:167371400-167372600	Weak transcription	Liver	Liver
47	chr6:167371400-167373000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr6:167371400-167373000	Weak transcription	Gastric	stomach
49	chr6:167371400-167373800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:167371400-167374400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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