Variant report

Variant	rs2446422
Chromosome Location	chr15:51634486-51634487
allele	G/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	MAX	chr15:51634030-51634638	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr15:51633514-51634680	H1-hESC	embryonic stem cell:	n/a	chr15:51633981-51633996
3	POLR2A	chr15:51633341-51634516	MCF-7	breast:	n/a	n/a
4	E2F6	chr15:51633419-51634831	H1-hESC	embryonic stem cell:	n/a	chr15:51633981-51633996
5	MAX	chr15:51633303-51634618	H1-hESC	embryonic stem cell:	n/a	chr15:51633425-51633436 chr15:51633425-51633436
6	HDAC2	chr15:51633297-51634719	MCF-7	breast:	n/a	n/a
7	NR2F2	chr15:51633184-51634524	MCF-7	breast:	n/a	n/a
8	HA-E2F1	chr15:51633139-51634630	MCF-7	breast:	n/a	n/a
9	MAX	chr15:51633109-51634777	MCF-7	breast:	n/a	chr15:51633425-51633436 chr15:51633425-51633436
10	MAX	chr15:51633510-51634709	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51631962..51635284-chr15:51658030..51661576,5	MCF-7	breast:
2	chr15:51629923..51631751-chr15:51631879..51634512,2	MCF-7	breast:
3	chr15:51634192..51635133-chr15:51673006..51674097,3	MCF-7	breast:
4	chr15:51633614..51635996-chr15:51658332..51660020,2	MCF-7	breast:
5	chr15:51632518..51637077-chr15:51639957..51644018,8	MCF-7	breast:

Variant related genes	Relation type
CYP19A1	TF binding region
ENSG00000259194	Chromatin interaction
ENSG00000137869	Chromatin interaction
ENSG00000270378	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12592133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12592656	0.83[ASN][1000 genomes]
rs12592672	0.83[ASN][1000 genomes]
rs17602385	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1870050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1902583	0.94[ASN][1000 genomes]
rs2445762	0.87[ASN][1000 genomes]
rs2445763	0.91[EUR][1000 genomes]
rs2445764	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2445769	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2445770	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2445771	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2446404	0.91[EUR][1000 genomes]
rs2446409	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2446425	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2446426	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2470145	0.91[EUR][1000 genomes]
rs2470146	0.91[EUR][1000 genomes]
rs2470149	0.82[EUR][1000 genomes]
rs2470150	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470161	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2470162	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2470165	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2470169	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs28757078	0.80[ASN][1000 genomes]
rs28757083	0.80[ASN][1000 genomes]
rs28892002	0.84[ASN][1000 genomes]
rs34203233	0.81[ASN][1000 genomes]
rs57553630	0.83[ASN][1000 genomes]
rs57680853	0.81[ASN][1000 genomes]
rs57841516	0.81[ASN][1000 genomes]
rs748838	0.84[ASN][1000 genomes]
rs868475	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv904215	chr15:51542193-51673125	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv904216	chr15:51631479-51739808	Bivalent Enhancer Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51633400-51634800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr15:51633400-51635000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr15:51633400-51635000	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr15:51633600-51634600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:51633600-51634600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr15:51633600-51634600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:51633600-51634600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:51633600-51634600	Active TSS	Aorta	Aorta
9	chr15:51633600-51634600	Bivalent/Poised TSS	Fetal Brain Female	brain
10	chr15:51633600-51634600	Flanking Active TSS	Psoas Muscle	Psoas
11	chr15:51633600-51634600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
12	chr15:51633600-51634600	Bivalent/Poised TSS	A549	lung
13	chr15:51633600-51634600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr15:51633600-51634600	Bivalent/Poised TSS	NHEK	skin
15	chr15:51633600-51634800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
16	chr15:51633600-51635000	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr15:51633600-51635200	Active TSS	Brain Angular Gyrus	brain
18	chr15:51633600-51635200	Active TSS	Brain Hippocampus Middle	brain
19	chr15:51633600-51635200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:51633600-51635200	Active TSS	Brain Substantia Nigra	brain
21	chr15:51633600-51635800	Active TSS	Brain Cingulate Gyrus	brain
22	chr15:51633800-51634600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr15:51633800-51634600	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:51633800-51634600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr15:51633800-51634600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:51633800-51634600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:51633800-51634600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:51633800-51634600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr15:51633800-51634600	Active TSS	Left Ventricle	heart
30	chr15:51633800-51634600	Active TSS	Right Atrium	heart
31	chr15:51633800-51634800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr15:51633800-51634800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr15:51633800-51635000	Active TSS	Brain Anterior Caudate	brain
34	chr15:51634000-51634600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr15:51634000-51634600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
36	chr15:51634000-51634800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
37	chr15:51634000-51634800	Bivalent/Poised TSS	Stomach Mucosa	stomach
38	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr15:51634200-51634600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
41	chr15:51634200-51634600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
43	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:51634200-51634600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
45	chr15:51634200-51634600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
47	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr15:51634200-51634600	Bivalent/Poised TSS	Fetal Heart	heart
49	chr15:51634200-51634600	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr15:51634200-51634600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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