Variant report

Variant	rs60358080
Chromosome Location	chr6:34495448-34495449
allele	C/T
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34494545..34497462-chr6:34498275..34503019,6	MCF-7	breast:
2	chr6:34131307..34131807-chr6:34494733..34495454,2	K562	blood:
3	chr6:34491195..34497458-chr6:34528901..34533837,5	K562	blood:
4	chr6:34494831..34497738-chr6:34508657..34510396,2	MCF-7	breast:
5	chr6:34494049..34496847-chr6:34497897..34503319,6	K562	blood:
6	chr6:34494680..34495634-chr6:34577124..34578035,2	MCF-7	breast:
7	chr6:34480102..34483166-chr6:34493351..34495807,3	MCF-7	breast:
8	chr6:34459450..34460981-chr6:34494263..34495839,2	K562	blood:
9	chr6:34382272..34384689-chr6:34494911..34496600,2	K562	blood:
10	chr6:34494873..34497912-chr6:34521168..34524393,3	MCF-7	breast:
11	chr6:34493240..34495795-chr6:34548549..34550240,2	K562	blood:
12	chr6:34494469..34496151-chr6:34577655..34579267,2	K562	blood:
13	chr6:34214520..34216995-chr6:34493716..34495769,3	K562	blood:
14	chr6:34493632..34501782-chr6:34512451..34525873,25	MCF-7	breast:
15	chr6:34495305..34497309-chr6:34500179..34501973,2	K562	blood:
16	chr6:34494038..34495878-chr6:34511727..34514586,2	K562	blood:
17	chr6:34494608..34496228-chr6:34576974..34578003,14	K562	blood:
18	chr6:34492976..34496422-chr6:34570016..34572960,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000186577	Chromatin interaction
ENSG00000124664	Chromatin interaction
ENSG00000124507	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs11754548	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11756280	0.94[ASN][1000 genomes]
rs11756281	0.94[ASN][1000 genomes]
rs11758420	0.94[ASN][1000 genomes]
rs11758426	0.94[ASN][1000 genomes]
rs11758471	0.94[ASN][1000 genomes]
rs1886980	0.90[ASN][1000 genomes]
rs2233637	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233639	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2233647	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2282249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2282251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2282252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2296575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2395595	0.98[ASN][1000 genomes]
rs2395596	0.94[ASN][1000 genomes]
rs3734362	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778069	0.96[ASN][1000 genomes]
rs3778071	0.96[ASN][1000 genomes]
rs3778075	0.94[ASN][1000 genomes]
rs3798546	0.94[ASN][1000 genomes]
rs3798549	0.94[ASN][1000 genomes]
rs3798551	0.98[ASN][1000 genomes]
rs3798552	0.98[ASN][1000 genomes]
rs3800466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3822986	0.94[ASN][1000 genomes]
rs3945698	0.96[ASN][1000 genomes]
rs55660517	0.90[ASN][1000 genomes]
rs56781192	0.96[ASN][1000 genomes]
rs59316688	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59738570	0.90[ASN][1000 genomes]
rs59778290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61453687	0.96[ASN][1000 genomes]
rs7754038	0.94[ASN][1000 genomes]
rs7763757	0.90[ASN][1000 genomes]
rs913017	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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 miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
7	esv1813536	chr6:34455242-34545123	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv885787	chr6:34458533-34546560	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	nsv885788	chr6:34464010-34551912	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	nsv1033583	chr6:34471572-34828372	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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	38 gene(s)	inside rSNPs	diseases
11	nsv885789	chr6:34474939-34546560	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	nsv1033325	chr6:34482287-34517857	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv885790	chr6:34483015-34542662	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	nsv885791	chr6:34483015-34546560	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv516578	chr6:34483015-34561585	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
16	nsv1022555	chr6:34488209-34517003	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv1801907	chr6:34492567-34545860	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
18	nsv1026919	chr6:34495371-34517857	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34489000-34495600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr6:34494000-34495600	Enhancers	Primary B cells from cord blood	blood
3	chr6:34494000-34495600	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:34494000-34495600	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr6:34494000-34495800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr6:34494200-34495600	Enhancers	Primary T cells from cord blood	blood
7	chr6:34494200-34495600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:34494200-34495600	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr6:34494200-34495600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr6:34494200-34495800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr6:34494200-34496000	Enhancers	A549	lung
12	chr6:34494400-34495600	Enhancers	Brain Hippocampus Middle	brain
13	chr6:34494400-34495800	Enhancers	Stomach Mucosa	stomach
14	chr6:34494600-34495600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:34494600-34495600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:34494600-34495600	Active TSS	Thymus	Thymus
17	chr6:34494800-34495600	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:34495000-34496200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:34495000-34504000	Weak transcription	Fetal Brain Male	brain
20	chr6:34495200-34495600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:34495200-34495600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:34495200-34495600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:34495200-34495600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr6:34495200-34495600	Enhancers	Liver	Liver
25	chr6:34495200-34495600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr6:34495200-34495600	Flanking Active TSS	Fetal Heart	heart
27	chr6:34495200-34495600	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr6:34495200-34495600	Flanking Active TSS	K562	blood
29	chr6:34495200-34495800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:34495200-34495800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:34495400-34495600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:34495400-34495600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:34495400-34495600	Enhancers	Fetal Intestine Small	intestine
34	chr6:34495400-34495600	Enhancers	Fetal Muscle Leg	muscle
35	chr6:34495400-34495600	Enhancers	Fetal Stomach	stomach
36	chr6:34495400-34495600	Enhancers	Fetal Thymus	thymus
37	chr6:34495400-34495600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr6:34495400-34495600	Enhancers	Dnd41	blood
39	chr6:34495400-34495600	Enhancers	NHLF	lung
40	chr6:34495400-34495800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr6:34495400-34495800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr6:34495400-34495800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:34495400-34495800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr6:34495400-34495800	Enhancers	Brain Anterior Caudate	brain
45	chr6:34495400-34495800	Enhancers	Brain Germinal Matrix	brain
46	chr6:34495400-34495800	Enhancers	Fetal Kidney	kidney
47	chr6:34495400-34495800	Enhancers	Fetal Lung	lung
48	chr6:34495400-34495800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr6:34495400-34495800	Enhancers	NHEK	skin
50	chr6:34495400-34496000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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