Variant report

Variant	rs676464
Chromosome Location	chr6:74291285-74291286
allele	A/C
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1691345	0.87[EUR][1000 genomes]
rs1691348	0.87[EUR][1000 genomes]
rs2753185	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs382038	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs445098	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs475461	0.89[EUR][1000 genomes]
rs535502	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs549852	0.88[EUR][1000 genomes]
rs565535	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs583443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs615956	0.88[EUR][1000 genomes]
rs626323	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs670248	0.81[EUR][1000 genomes]
rs678409	0.82[EUR][1000 genomes]
rs780065	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs780066	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs970091	0.82[EUR][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:102 , 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	chr6:74289400-74294800	Weak transcription	Pancreas	Pancrea
3	chr6:74289400-74302200	Weak transcription	Spleen	Spleen
4	chr6:74289400-74304000	Weak transcription	Right Ventricle	heart
5	chr6:74289600-74294800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:74289600-74295000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:74289600-74309600	Weak transcription	Lung	lung
8	chr6:74289600-74323800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:74289800-74301400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:74290400-74294800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:74290600-74294600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr6:74290600-74294800	Weak transcription	Fetal Thymus	thymus
13	chr6:74290600-74295000	Weak transcription	Primary T cells from cord blood	blood
14	chr6:74290600-74305800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:74290600-74318400	Weak transcription	Small Intestine	intestine
16	chr6:74290600-74338800	Weak transcription	Ovary	ovary
17	chr6:74290800-74291400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:74290800-74291600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:74290800-74294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:74290800-74294800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:74290800-74294800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:74290800-74294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:74290800-74294800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr6:74290800-74294800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:74290800-74295000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:74290800-74295000	Weak transcription	Fetal Kidney	kidney
27	chr6:74290800-74295200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:74291000-74291400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:74291000-74291400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:74291000-74291400	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:74291000-74291400	Enhancers	HepG2	liver
32	chr6:74291000-74291400	Enhancers	NHDF-Ad	bronchial
33	chr6:74291000-74291600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr6:74291000-74291600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr6:74291000-74291600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr6:74291000-74291600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:74291000-74291600	Enhancers	Hela-S3	cervix
38	chr6:74291000-74294400	Weak transcription	Primary B cells from cord blood	blood
39	chr6:74291000-74294400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:74291000-74294600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:74291000-74294800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:74291000-74294800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr6:74291000-74294800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr6:74291000-74294800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr6:74291000-74294800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:74291000-74294800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:74291000-74294800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:74291000-74294800	Weak transcription	Liver	Liver
49	chr6:74291000-74294800	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:74291000-74294800	Weak transcription	Duodenum Mucosa	Duodenum

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