Variant report

Variant	rs10943107
Chromosome Location	chr6:74290975-74290976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74240266..74241982-chr6:74289270..74292140,2	K562	blood:
2	chr17:58601960..58604487-chr6:74288896..74291198,2	MCF-7	breast:
3	chr6:74288220..74292842-chr6:74293561..74299022,14	K562	blood:
4	chr6:74224085..74235157-chr6:74287002..74297560,44	MCF-7	breast:
5	chr6:74269117..74271723-chr6:74288666..74291103,2	K562	blood:
6	chr6:74287590..74292040-chr6:74293648..74296536,4	MCF-7	breast:
7	chr6:74220978..74235626-chr6:74283533..74299827,68	K562	blood:
8	chr6:74289400..74291703-chr6:74315095..74317894,2	K562	blood:
9	chr6:74246086..74248922-chr6:74289757..74291955,2	MCF-7	breast:
10	chr6:74272516..74275188-chr6:74290634..74292979,3	K562	blood:
11	chr6:74289354..74292208-chr6:74297018..74299790,3	MCF-7	breast:
12	chr6:74164533..74167289-chr6:74290489..74292657,2	MCF-7	breast:
13	chr6:74236575..74238816-chr6:74288971..74291408,2	K562	blood:
14	chr6:74222492..74235445-chr6:74283533..74292948,42	K562	blood:
15	chr6:74223949..74234010-chr6:74285694..74297775,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259349	Chromatin interaction
ENSG00000223967	Chromatin interaction
ENSG00000229862	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000062725	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10455093	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10455094	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10455095	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10455279	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10455280	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10943108	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943109	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10943111	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10943114	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10943115	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10943118	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10943119	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11750970	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11751984	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758258	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11969324	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12154139	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12189643	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12189647	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12190442	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12190753	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12191213	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12192476	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12199348	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12199822	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12199937	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201702	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12201746	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12202024	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206001	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12207204	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12207961	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12210690	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12212339	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12212738	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12214293	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12214539	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758926	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3734517	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757112	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3799289	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3799290	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3799293	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3799295	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3823122	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3928609	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4706544	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4706545	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4706546	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4706547	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4706548	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4706549	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4706550	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4708068	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4708070	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55698483	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56004619	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390246	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62438423	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438424	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62438426	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs62438431	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62440461	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62440465	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62440489	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62440490	0.82[AMR][1000 genomes]
rs72947490	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341427	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9352013	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers 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 target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv527357	chr6:74253266-74325403	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74288000-74296000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74289000-74291000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:74289000-74291000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:74289000-74291000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:74289000-74291000	Enhancers	Esophagus	oesophagus
6	chr6:74289200-74291000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:74289400-74294800	Weak transcription	Pancreas	Pancrea
8	chr6:74289400-74302200	Weak transcription	Spleen	Spleen
9	chr6:74289400-74304000	Weak transcription	Right Ventricle	heart
10	chr6:74289600-74294800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr6:74289600-74295000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr6:74289600-74309600	Weak transcription	Lung	lung
13	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:74289800-74291000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr6:74289800-74291000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:74289800-74301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:74290000-74291000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr6:74290000-74291000	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr6:74290000-74291000	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr6:74290200-74291000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr6:74290200-74291000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:74290400-74291000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr6:74290400-74291000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:74290400-74291000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:74290400-74291000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr6:74290400-74291000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:74290400-74291000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr6:74290400-74291000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:74290400-74291000	Enhancers	Primary hematopoietic stem cells	blood
30	chr6:74290400-74291000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr6:74290400-74291000	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr6:74290400-74291000	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr6:74290400-74291000	Flanking Active TSS	Brain Hippocampus Middle	brain
34	chr6:74290400-74291000	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr6:74290400-74291000	Flanking Active TSS	Hela-S3	cervix
36	chr6:74290400-74291000	Flanking Active TSS	HepG2	liver
37	chr6:74290400-74291000	Flanking Active TSS	NH-A	brain
38	chr6:74290400-74291200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:74290400-74291200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:74290400-74291200	Flanking Active TSS	HUVEC	blood vessel
41	chr6:74290400-74294800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:74290600-74291000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:74290600-74291000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr6:74290600-74291000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr6:74290600-74291000	Enhancers	Primary B cells from cord blood	blood
46	chr6:74290600-74291000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:74290600-74291000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr6:74290600-74291000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:74290600-74291000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr6:74290600-74291000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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