Variant report

Variant	rs62399064
Chromosome Location	chr6:31037176-31037177
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30882829..30883945-chr6:31036385..31037390,5	MCF-7	breast:
2	chr6:30710754..30713406-chr6:31035181..31039052,3	MCF-7	breast:
3	chr6:30581752..30584952-chr6:31036204..31040339,4	K562	blood:
4	chr6:30795970..30796922-chr6:31036758..31037281,2	K562	blood:
5	chr6:30881653..30882509-chr6:31036542..31037231,3	MCF-7	breast:
6	chr6:30581752..30584952-chr6:31036534..31040339,3	K562	blood:
7	chr6:30883455..30884220-chr6:31036364..31037359,3	K562	blood:
8	chr6:30852224..30854652-chr6:31035119..31038739,4	MCF-7	breast:
9	chr6:30882000..30883400-chr6:31036317..31037327,3	K562	blood:
10	chr6:30789776..30790473-chr6:31036346..31037323,4	K562	blood:
11	chr6:30796728..30798385-chr6:31036794..31038711,2	MCF-7	breast:
12	chr6:30845624..30847125-chr6:31037029..31038938,2	MCF-7	breast:
13	chr6:30906546..30909468-chr6:31036144..31038096,2	K562	blood:
14	chr6:30881624..30883657-chr6:31036918..31039973,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137411	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000168631	Chromatin interaction
ENSG00000222894	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11756797	0.92[EUR][1000 genomes]
rs11758495	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35157432	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62398706	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62398740	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62398741	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62398744	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62398819	0.82[EUR][1000 genomes]
rs62399060	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62399061	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62399063	0.92[AFR][1000 genomes]
rs62399065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62399066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62401700	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62401701	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884130	chr6:31014305-31038756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv884131	chr6:31014305-31040725	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
11	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
12	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
13	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
14	nsv884134	chr6:31028345-31048263	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
15	nsv884135	chr6:31034264-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv884136	chr6:31036783-31044522	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31022200-31050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:31026200-31038000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:31033600-31038200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:31033800-31040200	Weak transcription	Fetal Intestine Small	intestine
5	chr6:31034200-31040000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:31034400-31040200	Weak transcription	HSMMtube	muscle
7	chr6:31035000-31040000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:31036000-31038400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:31036000-31040000	Weak transcription	HSMM	muscle
10	chr6:31036000-31041000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:31036200-31037200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:31036200-31038600	Enhancers	Brain Angular Gyrus	brain
13	chr6:31036200-31039000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:31036400-31037200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr6:31036400-31038200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr6:31036400-31038200	Weak transcription	HMEC	breast
17	chr6:31036400-31038400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:31036600-31037200	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:31036600-31038200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:31036600-31038400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:31036600-31038400	Weak transcription	NH-A	brain
22	chr6:31036600-31038400	Weak transcription	NHLF	lung
23	chr6:31036800-31037200	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:31036800-31037800	Enhancers	Brain Anterior Caudate	brain
25	chr6:31036800-31038000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:31036800-31038200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:31036800-31039000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:31036800-31039000	Enhancers	Brain Hippocampus Middle	brain
29	chr6:31037000-31037200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:31037000-31037200	Enhancers	Brain Substantia Nigra	brain
31	chr6:31037000-31037600	Enhancers	K562	blood
32	chr6:31037000-31038200	Weak transcription	Fetal Brain Male	brain
33	chr6:31037000-31038200	Weak transcription	Fetal Kidney	kidney
34	chr6:31037000-31038400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:31037000-31038400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr6:31037000-31038400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:31037000-31038400	Weak transcription	Fetal Stomach	stomach
38	chr6:31037000-31038400	Weak transcription	NHDF-Ad	bronchial
39	chr6:31037000-31047400	Weak transcription	Right Atrium	heart

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