Variant report

Variant	rs556899221
Chromosome Location	chr15:40212177-40212178
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	CTBP2	chr15:40211745-40213391	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr15:40211939-40213593	U87	brain:	n/a	n/a
3	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
4	POLR2A	chr15:40212050-40212718	HUVEC	blood vessel:	n/a	n/a
5	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
6	TBP	chr15:40212070-40213435	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:40211934-40213607	ProgFib	skin:	n/a	n/a
8	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
9	POLR2A	chr15:40212119-40212828	SK-N-SH	brain:	n/a	n/a
10	CTCF	chr15:40212060-40212210	SK-N-SH_RA	brain:	n/a	n/a
11	RAD21	chr15:40211713-40213724	IMR90	lung:	n/a	chr15:40212460-40212474 chr15:40213138-40213152 chr15:40212463-40212472 chr15:40212459-40212478
12	SIN3A	chr15:40210791-40213517	H1-hESC	embryonic stem cell:	n/a	chr15:40212876-40212887 chr15:40211973-40211984 chr15:40213174-40213183
13	E2F6	chr15:40211968-40213612	H1-hESC	embryonic stem cell:	n/a	chr15:40212251-40212260 chr15:40213151-40213160 chr15:40212313-40212323 chr15:40212394-40212403 chr15:40212410-40212419 chr15:40212983-40212990
14	POLR2A	chr15:40211977-40213513	H1-hESC	embryonic stem cell:	n/a	n/a
15	MXI1	chr15:40210471-40214149	IMR90	lung:	n/a	chr15:40213174-40213183
16	MAX	chr15:40211905-40213554	HepG2	liver:	n/a	chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
17	MAX	chr15:40211902-40213610	ECC-1	luminal epithelium:	n/a	chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
18	SIN3AK20	chr15:40211952-40213434	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr15:40211913-40213552	Gliobla	brain:	n/a	n/a
20	POLR2A	chr15:40212055-40213752	SK-N-MC	brain:	n/a	n/a
21	SIN3AK20	chr15:40211931-40213250	H1-hESC	embryonic stem cell:	n/a	n/a
22	RAD21	chr15:40211935-40212642	H1-hESC	embryonic stem cell:	n/a	chr15:40212460-40212474 chr15:40212463-40212472 chr15:40212459-40212478
23	MAX	chr15:40212073-40213690	ECC-1	luminal epithelium:	n/a	chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
24	MAX	chr15:40211966-40213569	SK-N-SH	brain:	n/a	chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
25	GABPA	chr15:40212007-40212440	H1-hESC	embryonic stem cell:	n/a	chr15:40212254-40212263 chr15:40212247-40212256
26	GABPA	chr15:40211943-40212467	H1-hESC	embryonic stem cell:	n/a	chr15:40212254-40212263 chr15:40212247-40212256
27	POLR2A	chr15:40212011-40213698	Hela-S3	cervix:	n/a	n/a
28	ZBTB7A	chr15:40212082-40213542	ECC-1	luminal epithelium:	n/a	chr15:40213008-40213017
29	CTCF	chr15:40212160-40212310	NHEK	skin:	n/a	n/a
30	POLR2A	chr15:40211000-40212806	H1-neurons	neurons:	n/a	n/a
31	CHD1	chr15:40210279-40213585	H1-hESC	embryonic stem cell:	n/a	chr15:40213198-40213208 chr15:40212983-40212990
32	POLR2A	chr15:40212038-40213826	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr15:40211945-40212247	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr15:40211896-40213687	A549	lung:	n/a	chr15:40212599-40212609 chr15:40213170-40213189 chr15:40213173-40213186 chr15:40213175-40213184 chr15:40213173-40213186 chr15:40213175-40213184
35	POLR2A	chr15:40212032-40213954	HUVEC	blood vessel:	n/a	n/a
36	GTF2F1	chr15:40212131-40212577	H1-hESC	embryonic stem cell:	n/a	n/a
37	MXI1	chr15:40210636-40213901	SK-N-SH	brain:	n/a	chr15:40213174-40213183
38	POLR2A	chr15:40212015-40212733	HUVEC	blood vessel:	n/a	n/a
39	TAF1	chr15:40211869-40213443	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr15:40212055-40212684	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr15:40211674-40213735	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr15:40211938-40212264	H1-hESC	embryonic stem cell:	n/a	n/a
43	SMARCB1	chr15:40211768-40213471	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:40212133-40212805	U87	brain:	n/a	n/a
45	E2F6	chr15:40211980-40213494	H1-hESC	embryonic stem cell:	n/a	chr15:40212251-40212260 chr15:40213151-40213160 chr15:40212313-40212323 chr15:40212394-40212403 chr15:40212410-40212419 chr15:40212983-40212990
46	POLR2A	chr15:40212085-40213654	HUVEC	blood vessel:	n/a	n/a
47	ZNF263	chr15:40211738-40213458	HEK293-T-REx	kidney:	n/a	n/a
48	E2F6	chr15:40211860-40213712	A549	lung:	n/a	chr15:40212251-40212260 chr15:40213151-40213160 chr15:40212313-40212323 chr15:40212394-40212403 chr15:40212410-40212419 chr15:40212983-40212990
49	POLR2A	chr15:40212090-40213593	U87	brain:	n/a	n/a
50	POLR2A	chr15:40210973-40212704	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40212176-40212226	HCM	heart:	n/a
2	chr15:40212176-40212226	GM12892	blood:	n/a
3	chr15:40212176-40212226	A549	lung:	n/a
4	chr15:40212176-40212226	BJ	skin:	n/a
5	chr15:40212176-40212226	Jurkat	blood:	n/a
6	chr15:40212176-40212226	T-47D	breast:	n/a
7	chr15:40212176-40212226	AoSMC	blood vessel:	n/a
8	chr15:40212176-40212226	HRCEpiC	kidney:	n/a
9	chr15:40212176-40212226	SAEC	small airway:	n/a
10	chr15:40212176-40212226	CMK	blood:	n/a
11	chr15:40212176-40212226	BE2_C	brain:	n/a
12	chr15:40212176-40212226	GM06990	blood:	n/a
13	chr15:40212176-40212226	NB4	blood:	n/a
14	chr15:40212176-40212226	SKMC	muscle:	n/a
15	chr15:40212176-40212226	Hela-S3	cervix:	n/a
16	chr15:40212176-40212226	SK-N-SH	brain:	n/a
17	chr15:40212176-40212226	AG09309	skin:	n/a
18	chr15:40212176-40212226	ProgFib	skin:	n/a
19	chr15:40212176-40212226	GM12891	blood:	n/a
20	chr15:40212176-40212226	PANC-1	pancreas:	n/a
21	chr15:40212176-40212226	MCF10A-Er-Src	breast:	n/a
22	chr15:40212176-40212226	GM12878	blood:	n/a
23	chr15:40212176-40212226	HCPEpiC	choroid plexus:	n/a
24	chr15:40212176-40212226	NHDF-neo	bronchial:	n/a
25	chr15:40212176-40212226	SK-N-SH_RA	brain:	n/a
26	chr15:40212176-40212226	MCF-7	breast:	n/a
27	chr15:40212176-40212226	HCF	heart:	n/a
28	chr15:40212176-40212226	LNCaP	prostate:	n/a
29	chr15:40212176-40212226	HEEpiC	esophagus:	n/a
30	chr15:40212176-40212226	AG04450	lung:	fetal
31	chr15:40212176-40212226	HRE	kidney:	n/a
32	chr15:40212176-40212226	ovcar-3	ovarian:	n/a
33	chr15:40212176-40212226	HAEpiC	amniotic membrane:	n/a
34	chr15:40212176-40212226	HPAEpiC	pulmonary alveolar:	n/a
35	chr15:40212176-40212226	Caco-2	colon:	n/a
36	chr15:40212176-40212226	NH-A	brain:	n/a
37	chr15:40212176-40212226	PFSK-1	brain:	n/a
38	chr15:40212176-40212226	AG10803	skin:	n/a
39	chr15:40212176-40212226	AG04449	skin:	fetal
40	chr15:40212176-40212226	RPTEC	kidney:	n/a
41	chr15:40212176-40212226	IMR90	lung:	fetal
42	chr15:40212176-40212226	HUVEC	blood vessel:	n/a
43	chr15:40212176-40212226	Hepatocyte	liver:	n/a
44	chr15:40212176-40212226	HepG2	liver:	n/a
45	chr15:40212176-40212226	U87	brain:	n/a
46	chr15:40212176-40212226	HNPCEpiC	eye:	n/a
47	chr15:40212176-40212226	HRPEpiC	eye:	n/a
48	chr15:40212176-40212226	ECC-1	luminal epithelium:	n/a
49	chr15:40212176-40212226	K562	blood:	n/a
50	chr15:40212176-40212226	HIPEpiC	eye:	n/a

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
GPR176	TF binding region
ENSG00000246863	TF binding region
ENSG00000246863	CpG island
GPR176	CpG island
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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40209000-40212400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:40209200-40213400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr15:40209200-40213800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:40209800-40213800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr15:40210000-40212400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr15:40210000-40213600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr15:40210200-40212600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr15:40210200-40212800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:40210200-40213600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:40210200-40213600	Active TSS	NHLF	lung
11	chr15:40210400-40212800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr15:40210400-40213400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:40210400-40213400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:40210400-40213600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:40210400-40213600	Active TSS	Aorta	Aorta
16	chr15:40210400-40213800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:40210600-40212600	Active TSS	HMEC	breast
18	chr15:40210600-40212800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr15:40210600-40213000	Active TSS	NH-A	brain
20	chr15:40210600-40213800	Active TSS	HSMM	muscle
21	chr15:40210800-40212600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr15:40210800-40212800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr15:40210800-40213400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:40210800-40213400	Active TSS	HSMMtube	muscle
25	chr15:40210800-40213600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:40210800-40213600	Active TSS	NHDF-Ad	bronchial
27	chr15:40210800-40213800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr15:40211000-40212400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr15:40211000-40212600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr15:40211000-40212600	Bivalent/Poised TSS	A549	lung
31	chr15:40211000-40212800	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr15:40211000-40213000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
33	chr15:40211000-40213400	Active TSS	Osteobl	bone
34	chr15:40211000-40213600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:40211000-40213600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:40211000-40213600	Active TSS	Brain Anterior Caudate	brain
37	chr15:40211200-40212400	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:40211200-40212400	Active TSS	Ovary	ovary
39	chr15:40211200-40212400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
40	chr15:40211200-40213000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:40211200-40213600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr15:40211200-40213600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr15:40211200-40213800	Active TSS	Brain Angular Gyrus	brain
44	chr15:40211200-40213800	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr15:40211400-40212200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:40211400-40212200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
47	chr15:40211400-40212200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
48	chr15:40211400-40212400	Active TSS	Brain Substantia Nigra	brain
49	chr15:40211400-40212400	Active TSS	Right Atrium	heart
50	chr15:40211400-40212600	Bivalent/Poised TSS	Fetal Kidney	kidney

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