Variant report

Variant	rs375618889
Chromosome Location	chr15:41785897-41785898
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	UBTF	chr15:41785103-41788925	K562	blood:	n/a	n/a
2	POLR2A	chr15:41785443-41786182	K562	blood:	n/a	n/a
3	POLR2A	chr15:41784933-41789149	HepG2	liver:	n/a	n/a
4	IRF1	chr15:41785297-41785994	K562	blood:	n/a	chr15:41785493-41785502 chr15:41785458-41785472
5	POLR2A	chr15:41785155-41785997	IMR90	lung:	n/a	n/a
6	E2F6	chr15:41785262-41787290	K562	blood:	n/a	chr15:41786107-41786117 chr15:41785457-41785467 chr15:41785462-41785471 chr15:41785890-41785902 chr15:41787003-41787012
7	TAF1	chr15:41785688-41786039	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:41785217-41786273	K562	blood:	n/a	n/a
9	MYC	chr15:41785897-41785999	HepG2	liver:	n/a	n/a
10	EGR1	chr15:41785675-41786111	MCF-7	breast:	n/a	n/a
11	ELF1	chr15:41785199-41786192	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:41785448-41785986	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:41785206-41786014	HepG2	liver:	n/a	n/a
14	ELF1	chr15:41785298-41786159	GM12878	blood:	n/a	n/a
15	YY1	chr15:41785742-41786032	GM12892	blood:	n/a	n/a
16	POLR2A	chr15:41785163-41786256	K562	blood:	n/a	n/a
17	POLR2A	chr15:41785496-41786143	MCF-7	breast:	n/a	n/a
18	NRF1	chr15:41785764-41786236	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:41785611-41786149	MCF-7	breast:	n/a	n/a
20	MYC	chr15:41784926-41787164	K562	blood:	n/a	chr15:41787148-41787158 chr15:41787004-41787014 chr15:41787041-41787050 chr15:41785812-41785822
21	MAX	chr15:41785320-41786837	HepG2	liver:	n/a	chr15:41785812-41785822
22	POLR2A	chr15:41785193-41786284	K562	blood:	n/a	n/a
23	CTCF	chr15:41785864-41786064	GM12878	blood:	n/a	chr15:41786047-41786060 chr15:41786044-41786062
24	TBL1XR1	chr15:41785381-41786070	K562	blood:	n/a	n/a
25	REST	chr15:41785851-41786171	K562	blood:	n/a	n/a
26	PAX5	chr15:41785783-41786383	GM12892	blood:	n/a	n/a
27	ELK1	chr15:41785749-41785999	GM12878	blood:	n/a	n/a
28	EGR1	chr15:41785796-41786089	GM12878	blood:	n/a	n/a
29	MYBL2	chr15:41785017-41785983	HepG2	liver:	n/a	n/a
30	PML	chr15:41785150-41786168	K562	blood:	n/a	chr15:41785920-41785928 chr15:41785956-41785964
31	TAF1	chr15:41785212-41786123	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr15:41785734-41786011	PFSK-1	brain:	n/a	n/a
33	ZBTB7A	chr15:41785395-41788440	K562	blood:	n/a	n/a
34	HMGN3	chr15:41785274-41787174	K562	blood:	n/a	n/a
35	RCOR1	chr15:41784943-41786126	K562	blood:	n/a	n/a
36	POLR2A	chr15:41785067-41789397	HepG2	liver:	n/a	n/a
37	RUNX3	chr15:41785779-41786075	GM12878	blood:	n/a	n/a
38	HDAC2	chr15:41785808-41786082	K562	blood:	n/a	n/a
39	POLR2A	chr15:41785744-41786226	HepG2	liver:	n/a	n/a
40	POLR2A	chr15:41785246-41786103	GM12878	blood:	n/a	n/a
41	POLR2A	chr15:41785317-41786143	GM18526	blood:	n/a	n/a
42	POLR2A	chr15:41784942-41786134	SK-N-MC	brain:	n/a	n/a
43	TAF1	chr15:41785662-41786187	K562	blood:	n/a	n/a
44	POLR2A	chr15:41785445-41786007	PANC-1	pancreas:	n/a	n/a
45	E2F4	chr15:41785801-41786020	GM12878	blood:	n/a	chr15:41785889-41785900 chr15:41785890-41785902
46	SIN3AK20	chr15:41785815-41786062	HepG2	liver:	n/a	n/a
47	MXI1	chr15:41785859-41786004	K562	blood:	n/a	n/a
48	HCFC1	chr15:41785436-41786019	K562	blood:	n/a	n/a
49	STAT5A	chr15:41785419-41786122	GM12878	blood:	n/a	chr15:41785650-41785661
50	POLR2A	chr15:41785085-41786229	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41784287..41786620-chr15:41827580..41829440,3	K562	blood:
2	chr15:41767730..41772843-chr15:41782564..41789351,11	K562	blood:
3	chr15:41785172..41787151-chr15:41835585..41837884,2	MCF-7	breast:
4	chr15:41784591..41787497-chr15:41813598..41816388,3	K562	blood:
5	chr15:41784244..41787186-chr15:41835793..41838130,2	MCF-7	breast:
6	chr15:41783980..41786928-chr15:41835398..41839034,5	K562	blood:
7	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
8	chr15:41785165..41786030-chr5:90678927..90679709,2	Hela-S3	cervix:

Variant related genes	Relation type
ITPKA	TF binding region
ENSG00000092445	Chromatin interaction
ENSG00000259838	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000137815	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524476	chr15:41689232-41820200	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv904110	chr15:41776692-41813279	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv904111	chr15:41777898-41805115	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv471241	chr15:41783814-41820200	Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv569233	chr15:41784809-41805237	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr15:41784600-41786000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr15:41784800-41786000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
3	chr15:41785000-41786000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:41785000-41786000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr15:41785000-41786000	Flanking Active TSS	HUVEC	blood vessel
10	chr15:41785000-41786000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
11	chr15:41785000-41786400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
12	chr15:41785000-41787000	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr15:41785000-41788800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:41785200-41786000	Flanking Active TSS	Liver	Liver
15	chr15:41785200-41786000	Flanking Active TSS	NH-A	brain
16	chr15:41785200-41786200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:41785200-41786200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:41785200-41786400	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr15:41785200-41786600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:41785200-41786800	Active TSS	Aorta	Aorta
21	chr15:41785200-41786800	Active TSS	Rectal Smooth Muscle	rectum
22	chr15:41785200-41788200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:41785200-41788200	Active TSS	Right Atrium	heart
24	chr15:41785200-41788400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr15:41785200-41788400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:41785200-41788600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr15:41785200-41788600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr15:41785200-41788600	Active TSS	HepG2	liver
29	chr15:41785200-41789000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:41785400-41786000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr15:41785400-41786000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:41785400-41786000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:41785400-41786000	Enhancers	Fetal Brain Male	brain
34	chr15:41785400-41786000	Active TSS	Fetal Lung	lung
35	chr15:41785400-41786000	Flanking Active TSS	Placenta	Placenta
36	chr15:41785400-41786200	Flanking Active TSS	HMEC	breast
37	chr15:41785400-41786400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
38	chr15:41785400-41786400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:41785400-41786400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:41785400-41786400	Active TSS	Colon Smooth Muscle	Colon
41	chr15:41785400-41786400	Active TSS	Fetal Intestine Large	intestine
42	chr15:41785400-41786400	Active TSS	Placenta Amnion	Placenta Amnion
43	chr15:41785400-41786400	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr15:41785400-41786600	Active TSS	Fetal Kidney	kidney
45	chr15:41785400-41786600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr15:41785400-41786800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr15:41785400-41786800	Active TSS	A549	lung
48	chr15:41785400-41787000	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr15:41785400-41787000	Active TSS	NHDF-Ad	bronchial
50	chr15:41785400-41787200	Active TSS	Brain Substantia Nigra	brain

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