Variant report

Variant	rs12546048
Chromosome Location	chr8:126185457-126185458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126184359..126187803-chr8:126204598..126207522,3	K562	blood:
2	chr8:126183828..126186606-chr8:126190098..126191640,2	MCF-7	breast:
3	chr8:126184530..126188708-chr8:126189850..126192758,4	MCF-7	breast:
4	chr8:126184387..126187013-chr8:126442001..126443979,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12545690	1.00[ASN][1000 genomes]
rs17318327	1.00[YRI][hapmap]
rs4601330	1.00[ASN][1000 genomes]
rs60187894	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60388854	1.00[ASN][1000 genomes]
rs73339880	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
10	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:126160600-126187400	Weak transcription	Gastric	stomach
14	chr8:126162200-126186600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:126163200-126193200	Weak transcription	Ovary	ovary
16	chr8:126164400-126186000	Weak transcription	NH-A	brain
17	chr8:126164600-126186000	Weak transcription	HSMM	muscle
18	chr8:126164800-126186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:126166000-126200200	Weak transcription	Dnd41	blood
20	chr8:126167000-126187000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:126169800-126187200	Weak transcription	Colonic Mucosa	Colon
23	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:126172000-126187000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
27	chr8:126172800-126186200	Weak transcription	Brain Anterior Caudate	brain
28	chr8:126172800-126186600	Weak transcription	Brain Angular Gyrus	brain
29	chr8:126173000-126186800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr8:126173400-126187000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:126174400-126185600	Weak transcription	Primary B cells from cord blood	blood
32	chr8:126175800-126186600	Weak transcription	Hela-S3	cervix
33	chr8:126176200-126185800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:126176200-126185800	Weak transcription	Fetal Heart	heart
35	chr8:126176200-126200400	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:126176600-126186600	Weak transcription	K562	blood
37	chr8:126179200-126194400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:126179200-126195800	Weak transcription	Esophagus	oesophagus
39	chr8:126179400-126187200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr8:126179400-126208800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:126179800-126193800	Weak transcription	Pancreas	Pancrea
42	chr8:126180000-126186600	Weak transcription	GM12878-XiMat	blood
43	chr8:126181200-126187400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:126181200-126188200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:126181600-126185800	Weak transcription	HMEC	breast
46	chr8:126181600-126186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:126181800-126186800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:126181800-126200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr8:126182000-126217600	Weak transcription	Fetal Kidney	kidney
50	chr8:126182200-126186000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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