Variant report

Variant	rs544904975
Chromosome Location	chr15:40213074-40213075
allele	C/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	POLR2A	chr15:40212862-40213682	U87	brain:	n/a	n/a
2	CTCF	chr15:40212940-40213090	BJ	skin:	n/a	n/a
3	CTBP2	chr15:40211745-40213391	H1-hESC	embryonic stem cell:	n/a	n/a
4	HA-E2F1	chr15:40212918-40213418	Hela-S3	cervix:	n/a	chr15:40213151-40213160 chr15:40213199-40213210 chr15:40212983-40212990
5	USF1	chr15:40213021-40213323	HepG2	liver:	n/a	chr15:40213173-40213186 chr15:40213173-40213184 chr15:40213205-40213221 chr15:40213143-40213159 chr15:40213213-40213229
6	POLR2A	chr15:40213034-40213436	HepG2	liver:	n/a	n/a
7	TAF1	chr15:40213036-40213273	K562	blood:	n/a	n/a
8	TEAD4	chr15:40212952-40213506	K562	blood:	n/a	n/a
9	POLR2A	chr15:40212212-40213492	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:40211939-40213593	U87	brain:	n/a	n/a
11	CTCF	chr15:40212997-40213261	K562	blood:	n/a	chr15:40213145-40213158
12	USF1	chr15:40212951-40213377	GM12878	blood:	n/a	chr15:40213173-40213186 chr15:40213173-40213184 chr15:40213205-40213221 chr15:40213143-40213159 chr15:40213213-40213229
13	CTCF	chr15:40213060-40213210	GM12875	blood:	n/a	chr15:40213145-40213158
14	MAX	chr15:40212053-40213564	SK-N-SH	brain:	n/a	chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
15	MAX	chr15:40212996-40213450	HepG2	liver:	n/a	chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
16	CTCF	chr15:40212980-40213130	HFF-Myc	foreskin:	n/a	n/a
17	MAX	chr15:40211842-40213891	A549	lung:	n/a	chr15:40211866-40211875 chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
18	CTCF	chr15:40212940-40213090	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr15:40212711-40213781	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr15:40212928-40213466	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:40212886-40213494	H1-neurons	neurons:	n/a	n/a
22	CTCF	chr15:40213046-40213126	Pancreas_OC	pancreas:	n/a	n/a
23	POLR2A	chr15:40213051-40213502	GM12892	blood:	n/a	n/a
24	ELF1	chr15:40212788-40213635	GM12878	blood:	n/a	n/a
25	CTCF	chr15:40212992-40213253	Fibrobl	skin:	n/a	chr15:40213145-40213158
26	CTCF	chr15:40213000-40213150	BE2_C	brain:	n/a	n/a
27	PML	chr15:40212871-40213476	MCF-7	breast:	n/a	n/a
28	CTCF	chr15:40212960-40213110	SAEC	small airway:	n/a	n/a
29	CTCFL	chr15:40212976-40213236	K562	blood:	n/a	n/a
30	CTCF	chr15:40212940-40213090	AG10803	skin:	n/a	n/a
31	TBP	chr15:40212070-40213435	H1-hESC	embryonic stem cell:	n/a	n/a
32	RAD21	chr15:40212954-40213474	SK-N-SH_RA	brain:	n/a	chr15:40213138-40213152
33	POLR2A	chr15:40212998-40213563	HL-60	blood:	n/a	n/a
34	POLR2A	chr15:40211934-40213607	ProgFib	skin:	n/a	n/a
35	CREB1	chr15:40212888-40213352	A549	lung:	n/a	chr15:40213173-40213186
36	JUND	chr15:40212975-40213464	A549	lung:	n/a	n/a
37	USF1	chr15:40212041-40213617	SK-N-SH	brain:	n/a	chr15:40213173-40213186 chr15:40212409-40212425 chr15:40213173-40213184 chr15:40213205-40213221 chr15:40213143-40213159 chr15:40213213-40213229
38	CTCF	chr15:40212980-40213130	GM12865	blood:	n/a	n/a
39	EGR1	chr15:40213008-40213714	HCT-116	colon:	n/a	n/a
40	POLR2A	chr15:40212911-40213568	GM19099	blood:	n/a	n/a
41	POLR2A	chr15:40213022-40213526	HL-60	blood:	n/a	n/a
42	E2F1	chr15:40212973-40213414	Hela-S3	cervix:	n/a	chr15:40213151-40213160 chr15:40213199-40213210 chr15:40212983-40212990
43	STAT5A	chr15:40212600-40213478	GM12878	blood:	n/a	n/a
44	BACH1	chr15:40212357-40213516	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAX	chr15:40212737-40213570	K562	blood:	n/a	chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
46	CTCF	chr15:40213013-40213148	GM10248	blood:	n/a	n/a
47	CTCF	chr15:40212937-40213400	GM12878	blood:	n/a	chr15:40213145-40213158
48	CTCF	chr15:40213000-40213150	GM12865	blood:	n/a	n/a
49	CTCF	chr15:40212980-40213130	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr15:40213040-40213190	NHEK	skin:	n/a	chr15:40213145-40213158

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40211366..40214080-chr15:40223428..40228644,6	MCF-7	breast:
2	chr15:40211846..40214390-chr15:40224576..40226655,2	K562	blood:

Variant related genes	Relation type
ENSG00000246863	TF binding region
GPR176	TF binding region
ENSG00000128829	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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv3388242	chr15:40210910-40214408	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
5	esv3374779	chr15:40211885-40214433	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40209200-40213400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr15:40209200-40213800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr15:40209800-40213800	Active TSS	H1 Cell Line	embryonic stem cell
4	chr15:40210000-40213600	Active TSS	H9 Cell Line	embryonic stem cell
5	chr15:40210200-40213600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr15:40210200-40213600	Active TSS	NHLF	lung
7	chr15:40210400-40213400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:40210400-40213400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:40210400-40213600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:40210400-40213600	Active TSS	Aorta	Aorta
11	chr15:40210400-40213800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:40210600-40213800	Active TSS	HSMM	muscle
13	chr15:40210800-40213400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:40210800-40213400	Active TSS	HSMMtube	muscle
15	chr15:40210800-40213600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40210800-40213600	Active TSS	NHDF-Ad	bronchial
17	chr15:40210800-40213800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr15:40211000-40213400	Active TSS	Osteobl	bone
19	chr15:40211000-40213600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:40211000-40213600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:40211000-40213600	Active TSS	Brain Anterior Caudate	brain
22	chr15:40211200-40213600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr15:40211200-40213600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:40211200-40213800	Active TSS	Brain Angular Gyrus	brain
25	chr15:40211200-40213800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:40211400-40213400	Active TSS	NHEK	skin
27	chr15:40211600-40213400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr15:40211600-40213400	Active TSS	Hela-S3	cervix
29	chr15:40211600-40213600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40211600-40213800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:40211800-40213200	Flanking Active TSS	Liver	Liver
32	chr15:40211800-40213200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr15:40211800-40213200	Flanking Active TSS	Pancreas	Pancrea
34	chr15:40211800-40213600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:40211800-40213600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
36	chr15:40211800-40213600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr15:40211800-40213800	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
38	chr15:40211800-40213800	Flanking Active TSS	Primary hematopoietic stem cells	blood
39	chr15:40211800-40213800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr15:40212000-40213400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:40212000-40213800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:40212200-40213200	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr15:40212200-40213800	Active TSS	Colon Smooth Muscle	Colon
44	chr15:40212400-40213400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:40212400-40213400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:40212400-40213600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
47	chr15:40212400-40213600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:40212400-40213800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:40212600-40213400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr15:40212600-40213600	Active TSS	ES-I3 Cell Line	embryonic stem cell

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