Variant report

Variant	rs556549616
Chromosome Location	chr15:40211273-40211274
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	MEF2A	chr15:40210637-40211414	SK-N-SH	brain:	n/a	chr15:40211025-40211040 chr15:40211027-40211038 chr15:40211026-40211040 chr15:40211021-40211042 chr15:40211025-40211041 chr15:40211021-40211042 chr15:40211028-40211037 chr15:40211021-40211042
2	PBX3	chr15:40210831-40211383	SK-N-SH	brain:	n/a	n/a
3	FOS	chr15:40210795-40211350	MCF10A-Er-Src	breast:	n/a	n/a
4	SIN3A	chr15:40210791-40213517	H1-hESC	embryonic stem cell:	n/a	chr15:40212876-40212887 chr15:40211973-40211984 chr15:40213174-40213183
5	MXI1	chr15:40210471-40214149	IMR90	lung:	n/a	chr15:40213174-40213183
6	POLR2A	chr15:40211201-40211388	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA3	chr15:40210713-40211358	SK-N-SH	brain:	n/a	chr15:40211172-40211182
8	POLR2A	chr15:40210710-40211489	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr15:40211000-40212806	H1-neurons	neurons:	n/a	n/a
10	CHD1	chr15:40210279-40213585	H1-hESC	embryonic stem cell:	n/a	chr15:40213198-40213208 chr15:40212983-40212990
11	FOSL2	chr15:40210644-40211415	SK-N-SH	brain:	n/a	n/a
12	TAF1	chr15:40211027-40211312	SK-N-SH	brain:	n/a	n/a
13	MXI1	chr15:40210636-40213901	SK-N-SH	brain:	n/a	chr15:40213174-40213183
14	POLR2A	chr15:40211019-40211295	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:40211103-40211582	ProgFib	skin:	n/a	n/a
16	POLR2A	chr15:40211038-40211761	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr15:40210982-40211390	HUVEC	blood vessel:	n/a	n/a
18	MYC	chr15:40210886-40211371	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:40211026-40211300	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:40210973-40212704	H1-neurons	neurons:	n/a	n/a
21	MAZ	chr15:40210685-40213698	IMR90	lung:	n/a	chr15:40211866-40211875 chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
22	POLR2A	chr15:40211039-40211407	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr15:40210896-40213468	HUVEC	blood vessel:	n/a	n/a
24	MEF2A	chr15:40210657-40211465	SK-N-SH	brain:	n/a	chr15:40211025-40211040 chr15:40211027-40211038 chr15:40211026-40211040 chr15:40211021-40211042 chr15:40211025-40211041 chr15:40211021-40211042 chr15:40211028-40211037 chr15:40211021-40211042
25	FOS	chr15:40210812-40211683	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr15:40210703-40211484	SK-N-SH	brain:	n/a	n/a
27	RAD21	chr15:40210723-40211419	IMR90	lung:	n/a	n/a
28	POLR2A	chr15:40210843-40211412	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr15:40210733-40211632	MCF10A-Er-Src	breast:	n/a	n/a
30	TAF7	chr15:40210630-40213418	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr15:40210311-40213781	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40211272-40211322	AG04450	lung:	fetal
2	chr15:40211272-40211322	GM12878	blood:	n/a
3	chr15:40211272-40211322	HCPEpiC	choroid plexus:	n/a
4	chr15:40211272-40211322	U87	brain:	n/a
5	chr15:40211272-40211322	GM12892	blood:	n/a
6	chr15:40211272-40211322	HEEpiC	esophagus:	n/a
7	chr15:40211272-40211322	LNCaP	prostate:	n/a
8	chr15:40211272-40211322	AG09309	skin:	n/a
9	chr15:40211272-40211322	HCT-116	colon:	n/a
10	chr15:40211272-40211322	PFSK-1	brain:	n/a
11	chr15:40211272-40211322	BJ	skin:	n/a
12	chr15:40211272-40211322	SK-N-SH	brain:	n/a
13	chr15:40211272-40211322	NT2-D1	testis:	n/a
14	chr15:40211272-40211322	SK-N-MC	brain:	n/a
15	chr15:40211272-40211322	Caco-2	colon:	n/a
16	chr15:40211272-40211322	HNPCEpiC	eye:	n/a
17	chr15:40211272-40211322	ProgFib	skin:	n/a
18	chr15:40211272-40211322	ovcar-3	ovarian:	n/a
19	chr15:40211272-40211322	GM12891	blood:	n/a
20	chr15:40211272-40211322	K562	blood:	n/a
21	chr15:40211272-40211322	HMEC	breast:	n/a
22	chr15:40211272-40211322	HRE	kidney:	n/a
23	chr15:40211272-40211322	ECC-1	luminal epithelium:	n/a
24	chr15:40211272-40211322	HepG2	liver:	n/a
25	chr15:40211272-40211322	AoSMC	blood vessel:	n/a
26	chr15:40211272-40211322	HIPEpiC	eye:	n/a
27	chr15:40211272-40211322	HCF	heart:	n/a
28	chr15:40211272-40211322	HRCEpiC	kidney:	n/a
29	chr15:40211272-40211322	Hepatocyte	liver:	n/a
30	chr15:40211272-40211322	HL-60	blood:	n/a
31	chr15:40211272-40211322	MCF-7	breast:	n/a
32	chr15:40211272-40211322	H1-hESC	embryonic stem cell:	embryo
33	chr15:40211272-40211322	BE2_C	brain:	n/a
34	chr15:40211272-40211322	GM06990	blood:	n/a
35	chr15:40211272-40211322	CMK	blood:	n/a
36	chr15:40211272-40211322	HCM	heart:	n/a
37	chr15:40211272-40211322	HPAEpiC	pulmonary alveolar:	n/a
38	chr15:40211272-40211322	Hela-S3	cervix:	n/a
39	chr15:40211272-40211322	IMR90	lung:	fetal
40	chr15:40211272-40211322	SKMC	muscle:	n/a
41	chr15:40211272-40211322	RPTEC	kidney:	n/a
42	chr15:40211272-40211322	A549	lung:	n/a
43	chr15:40211272-40211322	SAEC	small airway:	n/a
44	chr15:40211272-40211322	AG04449	skin:	fetal
45	chr15:40211272-40211322	NHBE	bronchial:	n/a
46	chr15:40211272-40211322	MCF10A-Er-Src	breast:	n/a
47	chr15:40211272-40211322	GM19239	blood:	n/a
48	chr15:40211272-40211322	PANC-1	pancreas:	n/a
49	chr15:40211272-40211322	AG10803	skin:	n/a
50	chr15:40211272-40211322	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:40209081..40211622-chr15:40223398..40225588,2	K562	blood:

Variant related genes	Relation type
ENSG00000246863	TF binding region
ENSG00000246863	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40199800-40211800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:40201400-40211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40209000-40212400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr15:40209200-40213400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr15:40209200-40213800	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr15:40209800-40213800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr15:40210000-40212400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:40210000-40213600	Active TSS	H9 Cell Line	embryonic stem cell
9	chr15:40210200-40211600	Flanking Active TSS	HUVEC	blood vessel
10	chr15:40210200-40212600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr15:40210200-40212800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:40210200-40213600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr15:40210200-40213600	Active TSS	NHLF	lung
14	chr15:40210400-40211400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:40210400-40211600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr15:40210400-40212800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr15:40210400-40213400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:40210400-40213400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:40210400-40213600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr15:40210400-40213600	Active TSS	Aorta	Aorta
21	chr15:40210400-40213800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:40210600-40212600	Active TSS	HMEC	breast
23	chr15:40210600-40212800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:40210600-40213000	Active TSS	NH-A	brain
25	chr15:40210600-40213800	Active TSS	HSMM	muscle
26	chr15:40210800-40211800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:40210800-40212600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr15:40210800-40212800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr15:40210800-40213400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:40210800-40213400	Active TSS	HSMMtube	muscle
31	chr15:40210800-40213600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr15:40210800-40213600	Active TSS	NHDF-Ad	bronchial
33	chr15:40210800-40213800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:40211000-40211400	Bivalent/Poised TSS	Fetal Brain Male	brain
35	chr15:40211000-40211400	Bivalent Enhancer	Fetal Lung	lung
36	chr15:40211000-40211600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:40211000-40211600	Flanking Active TSS	Hela-S3	cervix
38	chr15:40211000-40211800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
39	chr15:40211000-40211800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr15:40211000-40211800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
41	chr15:40211000-40212400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr15:40211000-40212600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr15:40211000-40212600	Bivalent/Poised TSS	A549	lung
44	chr15:40211000-40212800	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr15:40211000-40213000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr15:40211000-40213400	Active TSS	Osteobl	bone
47	chr15:40211000-40213600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:40211000-40213600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:40211000-40213600	Active TSS	Brain Anterior Caudate	brain
50	chr15:40211200-40211400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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