Variant report

Variant	rs12214265
Chromosome Location	chr6:119400934-119400935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr6:119400934-119401211	MCF10A-Er-Src	breast:	n/a	n/a
2	NFIC	chr6:119400292-119400935	ECC-1	luminal epithelium:	n/a	chr6:119400602-119400618 chr6:119400867-119400895
3	NFIC	chr6:119399912-119401209	ECC-1	luminal epithelium:	n/a	chr6:119400602-119400618 chr6:119400867-119400895
4	NFIC	chr6:119399962-119400979	SK-N-SH	brain:	n/a	chr6:119400602-119400618 chr6:119400867-119400895
5	MYC	chr6:119399683-119401040	K562	blood:	n/a	chr6:119400367-119400377

No.	Distal block	Cell Line	Cell type
1	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:
2	chr6:119398174..119401168-chr6:119668507..119671059,2	K562	blood:
3	chr6:119255727..119258203-chr6:119400226..119402388,2	K562	blood:
4	chr6:119213805..119216904-chr6:119398441..119401842,5	K562	blood:
5	chr6:119340150..119341982-chr6:119399183..119401577,2	K562	blood:

Variant related genes	Relation type
FAM184A	TF binding region
ENSG00000253194	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000111885	Chromatin interaction
ENSG00000111877	Chromatin interaction
ENSG00000111875	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10456919	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12189950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12190491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12190974	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12193093	0.98[ASN][1000 genomes]
rs12195153	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12195334	0.98[ASN][1000 genomes]
rs12195400	0.98[ASN][1000 genomes]
rs12198124	0.84[AFR][1000 genomes]
rs12201896	0.81[ASN][1000 genomes]
rs12204929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214184	0.97[ASN][1000 genomes]
rs1342793	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1418712	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1591368	0.98[ASN][1000 genomes]
rs1591369	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1775619	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2357022	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2782574	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2797355	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2797357	0.80[ASN][1000 genomes]
rs55810806	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55919736	0.98[ASN][1000 genomes]
rs56347939	0.98[ASN][1000 genomes]
rs603770	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs706978	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs706979	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72953079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72953080	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72955004	0.81[ASN][1000 genomes]
rs7745460	0.97[ASN][1000 genomes]
rs7768348	0.84[ASN][1000 genomes]
rs794250	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs794252	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs794253	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs794254	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs794255	0.85[ASN][1000 genomes]
rs794259	0.84[ASN][1000 genomes]
rs797002	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs811584	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119398000-119401000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:119398400-119401000	Active TSS	Ovary	ovary
3	chr6:119398400-119401200	Active TSS	Stomach Smooth Muscle	stomach
4	chr6:119398600-119401000	Active TSS	Right Atrium	heart
5	chr6:119398800-119401000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:119399400-119401000	Active TSS	Aorta	Aorta
7	chr6:119399400-119401000	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr6:119399400-119401000	Active TSS	NHDF-Ad	bronchial
9	chr6:119400200-119401000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:119400200-119401000	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr6:119400200-119401000	Flanking Active TSS	NHEK	skin
12	chr6:119400200-119401200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr6:119400200-119401200	Flanking Active TSS	K562	blood
14	chr6:119400600-119401000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:119400600-119401000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:119400600-119401000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:119400600-119401000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr6:119400600-119401000	Flanking Active TSS	Brain Angular Gyrus	brain
19	chr6:119400600-119401000	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr6:119400600-119401000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:119400600-119401000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr6:119400600-119401000	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr6:119400600-119401000	Enhancers	HSMM	muscle
24	chr6:119400600-119401200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:119400600-119401200	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr6:119400600-119401200	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr6:119400600-119401200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr6:119400600-119401400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:119400600-119402800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:119400800-119401000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:119400800-119401000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr6:119400800-119401000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:119400800-119401000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr6:119400800-119401000	Active TSS	Primary hematopoietic stem cells	blood
35	chr6:119400800-119401000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:119400800-119401000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr6:119400800-119401000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:119400800-119401000	Enhancers	Liver	Liver
39	chr6:119400800-119401000	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr6:119400800-119401000	Enhancers	Stomach Mucosa	stomach
41	chr6:119400800-119401000	Bivalent Enhancer	Osteobl	bone
42	chr6:119400800-119401200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:119400800-119401200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr6:119400800-119401200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:119400800-119401200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:119400800-119401200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr6:119400800-119401200	Enhancers	Fetal Intestine Large	intestine
48	chr6:119400800-119401200	Weak transcription	Fetal Muscle Leg	muscle
49	chr6:119400800-119401200	Enhancers	Rectal Smooth Muscle	rectum
50	chr6:119400800-119401200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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