Variant report

Variant	rs12207651
Chromosome Location	chr6:149546387-149546388
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149545459..149547626-chr6:149547997..149549609,2	K562	blood:
2	chr6:149536468..149539143-chr6:149545322..149548277,2	MCF-7	breast:
3	chr6:149544065..149546954-chr6:149554614..149556733,2	K562	blood:
4	chr6:149519037..149521681-chr6:149545497..149547204,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228408	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11965012	1.00[EUR][1000 genomes]
rs12197526	0.90[EUR][1000 genomes]
rs12197595	0.90[EUR][1000 genomes]
rs12200718	0.90[EUR][1000 genomes]
rs12201953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201961	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12202447	0.90[EUR][1000 genomes]
rs12203964	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12206090	0.93[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12213399	0.90[EUR][1000 genomes]
rs12215601	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437225	1.00[EUR][1000 genomes]
rs60916218	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73781703	1.00[EUR][1000 genomes]
rs73781705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73781709	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73781711	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73781712	0.95[EUR][1000 genomes]
rs73781713	0.95[EUR][1000 genomes]
rs9498253	0.90[EUR][1000 genomes]
rs9498258	1.00[EUR][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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149533200-149549400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr6:149534200-149547600	Weak transcription	Primary T cells from cord blood	blood
3	chr6:149534800-149548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:149535000-149546800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:149538200-149548600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:149540400-149551600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:149540600-149547200	Weak transcription	Brain Substantia Nigra	brain
8	chr6:149541400-149546600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:149542200-149560600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr6:149543000-149546600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr6:149543200-149547000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:149543800-149547400	Enhancers	Liver	Liver
13	chr6:149544200-149547600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr6:149544200-149548000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:149544400-149547400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:149544400-149547600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:149544400-149549600	Enhancers	Fetal Lung	lung
18	chr6:149544600-149547200	Enhancers	Brain Germinal Matrix	brain
19	chr6:149544600-149547600	Enhancers	Fetal Brain Male	brain
20	chr6:149544600-149548000	Enhancers	Adipose Nuclei	Adipose
21	chr6:149544800-149547000	Weak transcription	Brain Anterior Caudate	brain
22	chr6:149545000-149546400	Enhancers	Fetal Brain Female	brain
23	chr6:149545000-149547200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr6:149545200-149546600	Weak transcription	Ovary	ovary
25	chr6:149545400-149546600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:149545400-149550400	Weak transcription	Right Ventricle	heart
27	chr6:149545400-149553000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:149545600-149546400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr6:149545600-149546600	Weak transcription	Brain Hippocampus Middle	brain
30	chr6:149545600-149546800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr6:149545600-149549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:149545800-149547200	Weak transcription	Fetal Kidney	kidney
33	chr6:149545800-149548600	Weak transcription	Fetal Stomach	stomach
34	chr6:149545800-149549400	Weak transcription	HSMM	muscle
35	chr6:149545800-149551600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:149545800-149553000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr6:149545800-149557800	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:149545800-149560200	Weak transcription	Right Atrium	heart
39	chr6:149546000-149551600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr6:149546200-149549000	Weak transcription	Fetal Heart	heart

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