Variant report

Variant	rs34613232
Chromosome Location	chr6:74291042-74291043
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: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
ENSG00000229862	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000259349	Chromatin interaction
ENSG00000223967	Chromatin interaction
ENSG00000156508	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10455281	1.00[ASN][1000 genomes]
rs10498892	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10943112	1.00[ASN][1000 genomes]
rs10943113	1.00[ASN][1000 genomes]
rs10943117	1.00[ASN][1000 genomes]
rs11962999	0.83[EUR][1000 genomes]
rs11964414	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12189556	0.86[ASN][1000 genomes]
rs12193002	1.00[ASN][1000 genomes]
rs12195068	1.00[ASN][1000 genomes]
rs12195584	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12196281	1.00[ASN][1000 genomes]
rs12197318	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12197927	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12203363	1.00[ASN][1000 genomes]
rs12210126	1.00[ASN][1000 genomes]
rs12210394	1.00[ASN][1000 genomes]
rs12210825	1.00[ASN][1000 genomes]
rs12211279	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212297	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12213067	1.00[ASN][1000 genomes]
rs12213868	1.00[ASN][1000 genomes]
rs12214877	1.00[ASN][1000 genomes]
rs12216092	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193629	1.00[ASN][1000 genomes]
rs13202151	1.00[ASN][1000 genomes]
rs13203297	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13207999	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13211453	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13212809	1.00[ASN][1000 genomes]
rs2351118	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351119	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2351120	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2351121	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34342150	0.93[ASN][1000 genomes]
rs35256309	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35468063	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35584640	0.92[ASN][1000 genomes]
rs35659919	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35733187	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36131846	1.00[ASN][1000 genomes]
rs3734518	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757109	1.00[ASN][1000 genomes]
rs3757111	1.00[ASN][1000 genomes]
rs3799288	1.00[ASN][1000 genomes]
rs4708064	0.83[EUR][1000 genomes]
rs4708065	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59383274	1.00[ASN][1000 genomes]
rs62438456	1.00[ASN][1000 genomes]
rs62440462	1.00[ASN][1000 genomes]
rs72949387	1.00[ASN][1000 genomes]
rs7744053	1.00[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:105 , 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	chr6:74290400-74291200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:74290400-74291200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:74290400-74291200	Flanking Active TSS	HUVEC	blood vessel
13	chr6:74290400-74294800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:74290600-74291200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:74290600-74291200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:74290600-74291200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:74290600-74291200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:74290600-74291200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr6:74290600-74294600	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:74290600-74294800	Weak transcription	Fetal Thymus	thymus
21	chr6:74290600-74295000	Weak transcription	Primary T cells from cord blood	blood
22	chr6:74290600-74305800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr6:74290600-74318400	Weak transcription	Small Intestine	intestine
24	chr6:74290600-74338800	Weak transcription	Ovary	ovary
25	chr6:74290800-74291200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr6:74290800-74291200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr6:74290800-74291200	Enhancers	Primary B cells from peripheral blood	blood
28	chr6:74290800-74291400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:74290800-74291600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr6:74290800-74294800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr6:74290800-74294800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr6:74290800-74294800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr6:74290800-74294800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:74290800-74294800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr6:74290800-74294800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr6:74290800-74295000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:74290800-74295000	Weak transcription	Fetal Kidney	kidney
38	chr6:74290800-74295200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:74291000-74291200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr6:74291000-74291200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:74291000-74291200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:74291000-74291200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:74291000-74291200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr6:74291000-74291200	Enhancers	Adipose Nuclei	Adipose
45	chr6:74291000-74291200	Enhancers	A549	lung
46	chr6:74291000-74291200	Enhancers	HSMM	muscle
47	chr6:74291000-74291200	Enhancers	NH-A	brain
48	chr6:74291000-74291200	Active TSS	NHEK	skin
49	chr6:74291000-74291200	Enhancers	Osteobl	bone
50	chr6:74291000-74291400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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