Variant report

Variant	rs1611196
Chromosome Location	chr6:29757995-29757996
allele	C/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	SPI1	chr6:29757980-29758240	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29755459..29758755-chr6:29758827..29760410,3	MCF-7	breast:
2	chr6:29755654..29758226-chr6:29780556..29783054,2	MCF-7	breast:

Variant related genes	Relation type
HLA-V	TF binding region
ENSG00000181126	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs1362069	0.80[EUR][1000 genomes]
rs1419641	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610635	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610636	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610637	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610640	0.81[EUR][1000 genomes]
rs1610643	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610644	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1610645	0.81[EUR][1000 genomes]
rs1610646	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1610647	0.81[EUR][1000 genomes]
rs1610654	0.85[EUR][1000 genomes]
rs1610655	0.84[EUR][1000 genomes]
rs1610658	0.85[EUR][1000 genomes]
rs1610659	0.85[EUR][1000 genomes]
rs1610661	0.85[EUR][1000 genomes]
rs1610662	0.84[EUR][1000 genomes]
rs1610665	0.85[EUR][1000 genomes]
rs1610697	0.85[EUR][1000 genomes]
rs1610698	0.85[EUR][1000 genomes]
rs1610709	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1610710	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1610711	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1610714	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1610715	0.85[EUR][1000 genomes]
rs1610718	0.81[EUR][1000 genomes]
rs1610725	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1610726	0.83[EUR][1000 genomes]
rs1611172	0.83[EUR][1000 genomes]
rs1611175	0.82[EUR][1000 genomes]
rs1611191	0.85[EUR][1000 genomes]
rs1611195	0.85[EUR][1000 genomes]
rs1611207	0.81[EUR][1000 genomes]
rs1611211	0.81[EUR][1000 genomes]
rs1611219	0.81[EUR][1000 genomes]
rs1611220	0.81[EUR][1000 genomes]
rs1611221	0.81[EUR][1000 genomes]
rs1611223	0.81[EUR][1000 genomes]
rs1611228	0.83[EUR][1000 genomes]
rs1611229	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1611230	0.83[EUR][1000 genomes]
rs1611233	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1611252	0.84[EUR][1000 genomes]
rs1611260	0.82[EUR][1000 genomes]
rs1611267	0.85[EUR][1000 genomes]
rs1611270	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1611271	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1611275	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1612392	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1614309	0.84[EUR][1000 genomes]
rs1615962	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1618670	0.87[EUR][1000 genomes]
rs1624302	0.84[EUR][1000 genomes]
rs1629068	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1630969	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1632973	0.85[EUR][1000 genomes]
rs1632976	0.84[EUR][1000 genomes]
rs1632979	0.84[EUR][1000 genomes]
rs1632987	0.84[EUR][1000 genomes]
rs1632988	0.82[EUR][1000 genomes]
rs1632997	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1633000	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1633002	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1633004	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1633006	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1633007	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1633009	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633010	0.90[EUR][1000 genomes]
rs1633011	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633014	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1633015	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633016	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1633018	0.83[EUR][1000 genomes]
rs1633019	0.86[EUR][1000 genomes]
rs1633020	0.84[EUR][1000 genomes]
rs1633022	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633023	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633028	0.84[EUR][1000 genomes]
rs1633029	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633030	0.84[EUR][1000 genomes]
rs1633032	0.83[EUR][1000 genomes]
rs1633033	0.84[EUR][1000 genomes]
rs1633034	0.87[EUR][1000 genomes]
rs1633035	0.87[EUR][1000 genomes]
rs1633041	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1736963	0.84[EUR][1000 genomes]
rs1736964	0.85[EUR][1000 genomes]
rs1736966	0.85[EUR][1000 genomes]
rs1736967	0.85[EUR][1000 genomes]
rs1736968	0.85[EUR][1000 genomes]
rs1736969	0.85[EUR][1000 genomes]
rs1736971	0.85[EUR][1000 genomes]
rs1736972	0.84[EUR][1000 genomes]
rs1736973	0.84[EUR][1000 genomes]
rs1736974	0.84[EUR][1000 genomes]
rs1736975	0.84[EUR][1000 genomes]
rs1736983	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1736985	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1736986	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1736994	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1737000	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1737002	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1737009	0.81[EUR][1000 genomes]
rs1737010	0.81[EUR][1000 genomes]
rs1737011	0.81[EUR][1000 genomes]
rs1737012	0.81[EUR][1000 genomes]
rs1737013	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737014	0.81[EUR][1000 genomes]
rs1737015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737019	0.80[EUR][1000 genomes]
rs1737020	0.80[EUR][1000 genomes]
rs1737029	0.83[EUR][1000 genomes]
rs1737031	0.83[EUR][1000 genomes]
rs1737032	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737035	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737036	0.83[EUR][1000 genomes]
rs1737037	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737038	0.83[EUR][1000 genomes]
rs1737040	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737041	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737042	0.83[EUR][1000 genomes]
rs1737044	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1737045	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1737047	0.82[EUR][1000 genomes]
rs1737048	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1737049	0.83[EUR][1000 genomes]
rs1737050	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737051	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1737054	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737056	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1737057	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1737059	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2248870	0.84[EUR][1000 genomes]
rs2248871	0.84[EUR][1000 genomes]
rs2517919	0.82[EUR][1000 genomes]
rs2517920	0.82[EUR][1000 genomes]
rs2523410	0.82[EUR][1000 genomes]
rs2735029	0.85[EUR][1000 genomes]
rs2735042	0.83[EUR][1000 genomes]
rs2735044	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2844837	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28514417	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2893981	0.83[EUR][1000 genomes]
rs885938	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885939	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885940	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs909722	0.80[EUR][1000 genomes]
rs9258288	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9258289	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9258448	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv11180	chr6:29729381-29800066	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3332677	chr6:29733187-29961463	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	esv3423001	chr6:29733216-29878601	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3475027	chr6:29733297-29922699	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	esv3475028	chr6:29733297-29922699	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	esv3420260	chr6:29734457-29835593	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	esv3330285	chr6:29736281-29881328	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv883536	chr6:29746023-29760819	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv883537	chr6:29746023-29767611	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv883538	chr6:29748206-29760819	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv883539	chr6:29748206-29780529	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv3396224	chr6:29754243-29888093	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29756000-29758600	Weak transcription	Pancreas	Pancrea
2	chr6:29756800-29758400	Enhancers	HMEC	breast
3	chr6:29757000-29758000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:29757000-29758600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:29757200-29758600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:29757400-29758000	Enhancers	NHEK	skin
7	chr6:29757400-29759000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:29757600-29758000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr6:29757800-29758000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
10	chr6:29757800-29758400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:29757800-29758800	Enhancers	Hela-S3	cervix

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