Variant report

Variant	rs12574918
Chromosome Location	chr11:46724068-46724069
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:46639444..46641700-chr11:46721393..46724232,2	K562	blood:
2	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180423	Chromatin interaction
ENSG00000180210	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10838613	0.84[EUR][1000 genomes]
rs11038974	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12292425	0.81[EUR][1000 genomes]
rs12295266	0.80[EUR][1000 genomes]
rs12574259	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28372918	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3136435	0.96[ASN][1000 genomes]
rs3136456	0.96[ASN][1000 genomes]
rs3136474	0.94[ASN][1000 genomes]
rs3136490	0.93[ASN][1000 genomes]
rs35623865	0.80[EUR][1000 genomes]
rs4307676	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4319473	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4423142	0.92[EUR][1000 genomes]
rs55657382	0.82[EUR][1000 genomes]
rs55661562	0.82[EUR][1000 genomes]
rs55896955	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56349329	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57739486	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57744667	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60722866	0.81[EUR][1000 genomes]
rs60932698	0.84[EUR][1000 genomes]
rs61882757	0.80[EUR][1000 genomes]
rs61882758	0.80[EUR][1000 genomes]
rs61884264	0.80[EUR][1000 genomes]
rs61884271	0.84[EUR][1000 genomes]
rs61884273	0.85[EUR][1000 genomes]
rs61884274	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61884292	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61884295	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61884301	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61884324	0.89[ASN][1000 genomes]
rs61884327	0.89[ASN][1000 genomes]
rs6485685	0.82[EUR][1000 genomes]
rs7108770	0.82[EUR][1000 genomes]
rs7109698	0.92[EUR][1000 genomes]
rs7122039	0.81[EUR][1000 genomes]
rs7125907	0.81[EUR][1000 genomes]
rs7126316	0.84[EUR][1000 genomes]
rs7126343	0.85[EUR][1000 genomes]
rs7128092	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73449983	0.80[EUR][1000 genomes]
rs7484002	0.82[EUR][1000 genomes]
rs7924401	0.81[EUR][1000 genomes]
rs7926389	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46723200-46724400	Weak transcription	Aorta	Aorta
2	chr11:46723400-46724200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:46723400-46724200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:46723400-46724200	Enhancers	Primary B cells from peripheral blood	blood
5	chr11:46723400-46724200	Weak transcription	Gastric	stomach
6	chr11:46723400-46724200	Weak transcription	Lung	lung
7	chr11:46723400-46724200	Weak transcription	Pancreas	Pancrea
8	chr11:46723400-46724200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:46723400-46724200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:46723400-46724400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:46723400-46724400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:46723400-46724400	Weak transcription	Esophagus	oesophagus
13	chr11:46723400-46724400	Weak transcription	Right Ventricle	heart
14	chr11:46723400-46724600	Genic enhancers	Primary B cells from cord blood	blood
15	chr11:46723400-46724600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr11:46723400-46724800	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr11:46723400-46724800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:46723400-46725000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr11:46723400-46727200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:46723600-46724200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:46723600-46724200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:46723600-46724200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:46723600-46724200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:46723600-46724200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:46723600-46724200	Weak transcription	Adipose Nuclei	Adipose
26	chr11:46723600-46724200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr11:46723600-46724200	Weak transcription	Left Ventricle	heart
28	chr11:46723600-46724200	Weak transcription	Psoas Muscle	Psoas
29	chr11:46723600-46724200	Weak transcription	Spleen	Spleen
30	chr11:46723600-46724200	Weak transcription	HSMM	muscle
31	chr11:46723600-46724200	Weak transcription	NHLF	lung
32	chr11:46723600-46724400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:46723600-46724400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:46723600-46724400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:46723600-46724400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr11:46723600-46724400	Genic enhancers	Fetal Intestine Small	intestine
37	chr11:46723600-46724400	Weak transcription	Ovary	ovary
38	chr11:46723600-46724400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:46723600-46724400	Genic enhancers	Osteobl	bone
40	chr11:46723600-46724600	Genic enhancers	Colonic Mucosa	Colon
41	chr11:46723600-46724600	Genic enhancers	Fetal Muscle Leg	muscle
42	chr11:46723600-46724800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:46723600-46724800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr11:46723600-46724800	Genic enhancers	Duodenum Mucosa	Duodenum
45	chr11:46723600-46724800	Weak transcription	Fetal Brain Male	brain
46	chr11:46723600-46724800	Genic enhancers	Fetal Thymus	thymus
47	chr11:46723600-46724800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
48	chr11:46723600-46725000	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:46723600-46725000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:46723600-46725000	Genic enhancers	Primary T helper cells PMA-I stimulated	--

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