Variant report

Variant	rs12033201
Chromosome Location	chr1:10928291-10928292
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: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	chr1:10568670..10571119-chr1:10926842..10928478,2	K562	blood:
2	chr1:10576160..10578872-chr1:10926632..10929593,2	MCF-7	breast:
3	chr1:10927411..10929903-chr1:10960980..10963469,2	MCF-7	breast:
4	chr1:10751694..10755124-chr1:10925813..10928871,3	MCF-7	breast:
5	chr1:10925966..10930455-chr1:10932404..10937595,5	K562	blood:
6	chr1:10562142..10564951-chr1:10926770..10929049,2	K562	blood:
7	chr1:10927850..10929832-chr1:10934675..10937595,2	K562	blood:
8	chr1:10752227..10753991-chr1:10926922..10928500,5	MCF-7	breast:
9	chr1:10919663..10923359-chr1:10925488..10928766,3	MCF-7	breast:
10	chr1:10754807..10756455-chr1:10925799..10928452,2	MCF-7	breast:
11	chr1:10926964..10929247-chr1:10959901..10962873,4	MCF-7	breast:
12	chr1:10895615..10898736-chr1:10923813..10928307,5	K562	blood:
13	chr1:10911727..10913949-chr1:10927458..10930368,2	K562	blood:
14	chr1:10926420..10929831-chr1:10932404..10934606,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130940	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12028719	0.84[EUR][1000 genomes]
rs12030479	0.82[EUR][1000 genomes]
rs12048262	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12048967	0.87[EUR][1000 genomes]
rs12724489	1.00[AFR][1000 genomes]
rs12724989	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs34542452	0.84[EUR][1000 genomes]
rs34896200	0.87[EUR][1000 genomes]
rs36047809	0.87[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	nsv529981	chr1:10697093-11353487	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2757723	chr1:10742502-11055147	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2758921	chr1:10742502-11055147	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv871617	chr1:10858746-10935232	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv871155	chr1:10858746-10998509	Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv1825837	chr1:10887923-11093741	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv832425	chr1:10903845-11122975	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS 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
8	nsv545406	chr1:10915507-10935232	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3355758	chr1:10925990-10928738	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10926000-10928600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr1:10926400-10928400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:10926600-10928400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:10927000-10929600	Bivalent Enhancer	Placenta	Placenta
5	chr1:10927600-10928400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr1:10927600-10928800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
7	chr1:10927600-10928800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:10927600-10942800	Weak transcription	Right Atrium	heart
9	chr1:10927800-10928400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:10927800-10928400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:10927800-10928400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:10927800-10928400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:10927800-10928400	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr1:10927800-10928400	Bivalent Enhancer	Fetal Brain Female	brain
15	chr1:10927800-10928400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr1:10927800-10928400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
17	chr1:10927800-10928600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:10927800-10928600	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr1:10927800-10928600	Enhancers	Fetal Lung	lung
20	chr1:10928000-10928800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:10928200-10928400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:10928200-10928400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:10928200-10929000	Enhancers	Fetal Intestine Small	intestine

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