Variant report

Variant	rs12197526
Chromosome Location	chr6:149533899-149533900
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:149532328..149534775-chr6:149538488..149542514,4	K562	blood:
2	chr6:149532501..149535186-chr6:149537536..149540532,2	MCF-7	breast:
3	chr6:149529664..149531890-chr6:149533306..149535145,2	K562	blood:
4	chr6:149412611..149415289-chr6:149531964..149533952,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228408	Chromatin interaction
ENSG00000055208	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11965012	0.90[EUR][1000 genomes]
rs12197595	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12200718	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12201953	0.90[EUR][1000 genomes]
rs12201961	0.90[EUR][1000 genomes]
rs12202447	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12202776	0.81[EUR][1000 genomes]
rs12203964	0.85[EUR][1000 genomes]
rs12206090	0.90[EUR][1000 genomes]
rs12207651	0.90[EUR][1000 genomes]
rs12211226	0.81[EUR][1000 genomes]
rs12213399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437225	0.90[EUR][1000 genomes]
rs60916218	0.90[EUR][1000 genomes]
rs73781703	0.90[EUR][1000 genomes]
rs73781705	0.90[EUR][1000 genomes]
rs73781708	0.90[EUR][1000 genomes]
rs73781709	0.90[EUR][1000 genomes]
rs73781711	0.85[EUR][1000 genomes]
rs73781712	0.85[EUR][1000 genomes]
rs73781713	0.85[EUR][1000 genomes]
rs9498253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9498258	0.90[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149530600-149534600	Enhancers	Colon Smooth Muscle	Colon
2	chr6:149530600-149534800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:149530600-149534800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:149530600-149535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:149530600-149535400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:149530600-149535600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:149530600-149535600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:149530800-149534200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr6:149530800-149534600	Enhancers	Rectal Smooth Muscle	rectum
10	chr6:149530800-149534800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr6:149530800-149534800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:149530800-149535000	Enhancers	Brain Anterior Caudate	brain
13	chr6:149530800-149535400	Enhancers	Fetal Heart	heart
14	chr6:149530800-149535400	Enhancers	Fetal Lung	lung
15	chr6:149530800-149535600	Enhancers	Primary hematopoietic stem cells	blood
16	chr6:149530800-149535600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr6:149530800-149535600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr6:149530800-149535600	Enhancers	Fetal Stomach	stomach
19	chr6:149530800-149536000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:149531000-149534000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:149531000-149534000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr6:149531000-149534400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr6:149531000-149534600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:149531000-149534600	Enhancers	NH-A	brain
25	chr6:149531000-149534800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:149531000-149535000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:149531000-149535000	Enhancers	Brain Substantia Nigra	brain
28	chr6:149531000-149535200	Enhancers	Osteobl	bone
29	chr6:149531000-149535400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:149532000-149534200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:149532200-149534200	Enhancers	Pancreas	Pancrea
32	chr6:149532600-149534200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:149532600-149534200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:149532600-149534200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr6:149532600-149534200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr6:149532600-149534800	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr6:149532600-149535000	Weak transcription	HSMM	muscle
38	chr6:149533000-149534600	Enhancers	Brain Cingulate Gyrus	brain
39	chr6:149533200-149534800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr6:149533200-149535000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr6:149533200-149535000	Flanking Active TSS	GM12878-XiMat	blood
42	chr6:149533200-149549400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr6:149533400-149535000	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:149533400-149535200	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr6:149533600-149534000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr6:149533600-149534400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:149533600-149534400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:149533600-149534400	Enhancers	Ovary	ovary
49	chr6:149533600-149534600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:149533600-149534800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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