Variant report

Variant	rs12190611
Chromosome Location	chr6:119468154-119468155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119453269..119456548-chr6:119464804..119468578,3	MCF-7	breast:
2	chr6:119449639..119451430-chr6:119466197..119468847,2	K562	blood:
3	chr6:119467858..119470789-chr6:119668770..119672252,3	K562	blood:
4	chr6:119455611..119461723-chr6:119466568..119469851,5	K562	blood:
5	chr6:119467902..119470326-chr6:119670828..119672747,2	MCF-7	breast:
6	chr6:119455611..119458749-chr6:119466100..119469942,4	K562	blood:

Variant related genes	Relation type
ENSG00000111885	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1891540	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608541	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs611211	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs624829	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs638368	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs656012	0.88[EUR][1000 genomes]
rs666655	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs678974	0.87[EUR][1000 genomes]
rs682949	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683488	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6910397	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6928078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6934752	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6935092	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs733259	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs733260	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387637	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9398503	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9401130	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119450600-119469600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:119451400-119468800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr6:119457000-119474800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:119459000-119469000	Weak transcription	Lung	lung
5	chr6:119461800-119468600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:119465800-119468800	Enhancers	HepG2	liver
7	chr6:119465800-119468800	Enhancers	NHDF-Ad	bronchial
8	chr6:119465800-119469800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:119466000-119469000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:119466000-119469400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:119466000-119469800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:119466200-119469800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr6:119466200-119469800	Enhancers	HUVEC	blood vessel
14	chr6:119466200-119470200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr6:119466400-119468600	Enhancers	GM12878-XiMat	blood
16	chr6:119466600-119468200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:119466600-119469400	Weak transcription	Fetal Lung	lung
18	chr6:119466800-119468600	Weak transcription	Dnd41	blood
19	chr6:119466800-119469000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr6:119466800-119470200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:119467400-119468800	Enhancers	NH-A	brain
22	chr6:119467600-119468200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:119467600-119468200	Enhancers	Primary hematopoietic stem cells	blood
24	chr6:119467600-119468200	Enhancers	NHEK	skin
25	chr6:119467600-119468600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr6:119467600-119469200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:119467600-119469400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:119467600-119469800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr6:119467600-119470200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:119467600-119470200	Enhancers	Hela-S3	cervix
31	chr6:119467800-119468200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr6:119467800-119468200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:119467800-119468400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:119467800-119468600	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr6:119467800-119468800	Enhancers	Adipose Nuclei	Adipose
36	chr6:119467800-119469600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr6:119467800-119469800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:119467800-119469800	Enhancers	Fetal Heart	heart
39	chr6:119467800-119469800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr6:119467800-119469800	Enhancers	HSMM	muscle
41	chr6:119467800-119470200	Enhancers	Stomach Mucosa	stomach
42	chr6:119467800-119470600	Enhancers	NHLF	lung
43	chr6:119467800-119470800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr6:119467800-119470800	Enhancers	HMEC	breast
45	chr6:119468000-119468200	Enhancers	Brain Hippocampus Middle	brain
46	chr6:119468000-119468200	Enhancers	Fetal Thymus	thymus
47	chr6:119468000-119468200	Flanking Active TSS	A549	lung
48	chr6:119468000-119468200	Flanking Active TSS	K562	blood
49	chr6:119468000-119468200	Enhancers	Osteobl	bone
50	chr6:119468000-119468400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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