Variant report

Variant	rs12916364
Chromosome Location	chr15:49338132-49338133
allele	A/G
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	REST	chr15:49337878-49338984	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr15:49338120-49338992	IMR90	lung:	n/a	n/a
3	MAX	chr15:49337923-49339056	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:49337991-49339130	Raji	blood:	n/a	n/a
5	POLR2A	chr15:49338083-49339085	K562	blood:	n/a	n/a
6	HCFC1	chr15:49336274-49339327	Hela-S3	cervix:	n/a	n/a
7	TEAD4	chr15:49337953-49338335	H1-hESC	embryonic stem cell:	n/a	chr15:49338121-49338130
8	MAZ	chr15:49337977-49339198	K562	blood:	n/a	n/a
9	TAF1	chr15:49337948-49338236	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:49337839-49339198	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr15:49337807-49338217	GM12878	blood:	n/a	n/a
12	CHD1	chr15:49337733-49338925	H1-hESC	embryonic stem cell:	n/a	n/a
13	MXI1	chr15:49337412-49339761	SK-N-SH	brain:	n/a	chr15:49338874-49338883
14	POLR2A	chr15:49337623-49339348	MCF10A-Er-Src	breast:	n/a	n/a
15	PAX5	chr15:49337849-49338286	GM12878	blood:	n/a	chr15:49338000-49338019
16	RCOR1	chr15:49337714-49338138	GM12878	blood:	n/a	n/a
17	YY1	chr15:49338057-49339072	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:49338043-49339090	GM12892	blood:	n/a	n/a
19	SIN3AK20	chr15:49337949-49339050	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:49338037-49339074	Hela-S3	cervix:	n/a	n/a
21	SMARCB1	chr15:49338060-49339042	Hela-S3	cervix:	n/a	n/a
22	JUN	chr15:49337967-49340325	K562	blood:	n/a	n/a
23	TBP	chr15:49338021-49339132	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:49338063-49339057	H1-hESC	embryonic stem cell:	n/a	n/a
25	RCOR1	chr15:49337903-49339133	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:49338031-49339071	GM18951	blood:	n/a	n/a
27	BHLHE40	chr15:49337629-49339322	GM12878	blood:	n/a	chr15:49338296-49338312
28	POLR2A	chr15:49337869-49339135	MCF10A-Er-Src	breast:	n/a	n/a
29	STAT1	chr15:49338011-49338145	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:49337987-49339077	GM15510	blood:	n/a	n/a
31	PAX5	chr15:49337822-49338351	GM12878	blood:	n/a	chr15:49338000-49338019
32	EBF1	chr15:49337658-49338135	GM12878	blood:	n/a	n/a
33	MAX	chr15:49337936-49339147	NB4	blood:	n/a	n/a
34	PAX5	chr15:49337912-49338150	GM12878	blood:	n/a	chr15:49338000-49338019
35	POLR2A	chr15:49337987-49339090	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr15:49338002-49338977	Hela-S3	cervix:	n/a	n/a
37	REST	chr15:49337730-49339309	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr15:49337898-49338974	Hela-S3	cervix:	n/a	n/a
39	BCLAF1	chr15:49337736-49338305	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:49337781-49339129	GM19099	blood:	n/a	n/a
41	WRNIP1	chr15:49337918-49339033	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:49337875-49339164	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:49338116-49338136	Gliobla	brain:	n/a	n/a
44	CTBP2	chr15:49338119-49339056	H1-hESC	embryonic stem cell:	n/a	n/a
45	ELF1	chr15:49338112-49338985	GM12878	blood:	n/a	chr15:49338446-49338458 chr15:49338437-49338449 chr15:49338805-49338817
46	CTCF	chr15:49337917-49339291	SK-N-SH	brain:	n/a	chr15:49338876-49338889
47	TCF7L2	chr15:49337968-49338231	PANC-1	pancreas:	n/a	n/a
48	CHD2	chr15:49337595-49339060	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:49337900-49338318	GM12891	blood:	n/a	n/a
50	UBTF	chr15:49337914-49339008	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:49337641..49340367-chr15:49461061..49463741,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL577P	TF binding region
ENSG00000264210	Chromatin interaction
ENSG00000156958	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11070677	1.00[CEU][hapmap];0.83[JPT][hapmap];0.93[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11070679	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11070681	0.86[CEU][hapmap]
rs11542124	0.84[AFR][1000 genomes]
rs11635777	0.95[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12441272	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12442006	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12904439	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12915955	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2305195	1.00[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34825252	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35212550	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4354871	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4480739	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4775791	0.81[EUR][1000 genomes]
rs4775793	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775797	1.00[CEU][hapmap];0.82[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7177541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs725815	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs8026097	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8033060	0.81[YRI][hapmap]
rs935001	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs935002	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs935004	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9920868	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49335800-49339200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:49335800-49339200	Active TSS	NHLF	lung
3	chr15:49336200-49338200	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr15:49336200-49339200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr15:49336200-49339200	Active TSS	HMEC	breast
6	chr15:49336200-49339400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr15:49336200-49339800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:49336400-49338200	Active TSS	Right Atrium	heart
9	chr15:49336400-49338600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:49336400-49338800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:49336400-49338800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
12	chr15:49336400-49338800	Active TSS	K562	blood
13	chr15:49336400-49339000	Active TSS	Stomach Smooth Muscle	stomach
14	chr15:49336400-49339000	Active TSS	HSMMtube	muscle
15	chr15:49336400-49339200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:49336400-49339200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:49336400-49339200	Active TSS	Brain Anterior Caudate	brain
18	chr15:49336400-49339200	Active TSS	Placenta	Placenta
19	chr15:49336400-49339400	Active TSS	Brain Angular Gyrus	brain
20	chr15:49336600-49338200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr15:49336600-49338200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:49336600-49338200	Flanking Active TSS	Liver	Liver
23	chr15:49336600-49339000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr15:49336600-49339000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:49336600-49339200	Active TSS	Aorta	Aorta
26	chr15:49336600-49339200	Active TSS	Ovary	ovary
27	chr15:49336600-49339200	Active TSS	Psoas Muscle	Psoas
28	chr15:49336600-49339200	Active TSS	Right Ventricle	heart
29	chr15:49336800-49338200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:49336800-49339000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr15:49336800-49339000	Active TSS	Stomach Mucosa	stomach
32	chr15:49336800-49339200	Active TSS	H1 Cell Line	embryonic stem cell
33	chr15:49336800-49339200	Active TSS	Brain Substantia Nigra	brain
34	chr15:49336800-49339200	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr15:49336800-49339200	Active TSS	Fetal Brain Male	brain
36	chr15:49336800-49339200	Active TSS	NH-A	brain
37	chr15:49336800-49339200	Active TSS	NHDF-Ad	bronchial
38	chr15:49336800-49339400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:49336800-49339400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr15:49337000-49339000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr15:49337000-49339000	Active TSS	A549	lung
42	chr15:49337000-49339000	Active TSS	GM12878-XiMat	blood
43	chr15:49337000-49339000	Active TSS	Hela-S3	cervix
44	chr15:49337000-49339000	Active TSS	HSMM	muscle
45	chr15:49337000-49339000	Active TSS	NHEK	skin
46	chr15:49337000-49339200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:49337000-49339200	Active TSS	Fetal Intestine Large	intestine
48	chr15:49337000-49339200	Active TSS	Fetal Kidney	kidney
49	chr15:49337000-49339200	Active TSS	Fetal Stomach	stomach
50	chr15:49337000-49339400	Active TSS	ES-I3 Cell Line	embryonic stem cell

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