Variant report

Variant	rs73443032
Chromosome Location	chr15:83349777-83349778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:83348734-83349927	K562	blood:	n/a	n/a
2	POLR2A	chr15:83349051-83349789	K562	blood:	n/a	n/a
3	MAX	chr15:83348722-83349940	MCF-7	breast:	n/a	n/a
4	POLR2A	chr15:83348985-83350278	K562	blood:	n/a	n/a
5	TBP	chr15:83348927-83349788	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr15:83348670-83349918	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr15:83348581-83349874	MCF-7	breast:	n/a	chr15:83348869-83348881
8	PML	chr15:83348910-83349821	MCF-7	breast:	n/a	n/a
9	TAF1	chr15:83348812-83349956	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr15:83348913-83349861	K562	blood:	n/a	n/a
11	RCOR1	chr15:83348957-83349927	K562	blood:	n/a	n/a
12	POLR2A	chr15:83349172-83350447	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:83348787-83350085	K562	blood:	n/a	n/a
14	MAX	chr15:83348725-83349876	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr15:83349192-83349872	H1-hESC	embryonic stem cell:	n/a	n/a
16	ELF1	chr15:83348928-83349866	MCF-7	breast:	n/a	n/a
17	MYC	chr15:83348808-83349944	K562	blood:	n/a	n/a
18	POLR2A	chr15:83348860-83350044	H1-hESC	embryonic stem cell:	n/a	n/a
19	HA-E2F1	chr15:83349247-83349847	MCF-7	breast:	n/a	n/a
20	SIN3A	chr15:83348870-83350097	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:83348925-83350038	MCF-7	breast:	n/a	n/a
22	POLR2A	chr15:83349066-83349777	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr15:83348853-83349993	MCF-7	breast:	n/a	n/a
24	GABPA	chr15:83349026-83349907	MCF-7	breast:	n/a	n/a
25	E2F6	chr15:83348786-83349803	K562	blood:	n/a	n/a
26	MAX	chr15:83348677-83349792	ECC-1	luminal epithelium:	n/a	n/a
27	TAF1	chr15:83349186-83349848	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr15:83348793-83350482	MCF-7	breast:	n/a	n/a
29	POLR2A	chr15:83349187-83349848	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr15:83349074-83349807	ECC-1	luminal epithelium:	n/a	n/a
31	TCF12	chr15:83348637-83349814	ECC-1	luminal epithelium:	n/a	n/a
32	MAX	chr15:83348691-83349983	MCF-7	breast:	n/a	n/a
33	UBTF	chr15:83348841-83349879	K562	blood:	n/a	n/a
34	SIN3AK20	chr15:83348715-83350270	MCF-7	breast:	n/a	n/a
35	HMGN3	chr15:83348785-83349876	K562	blood:	n/a	n/a
36	MAX	chr15:83348713-83349958	H1-hESC	embryonic stem cell:	n/a	n/a
37	RAD21	chr15:83348825-83349870	MCF-7	breast:	n/a	chr15:83349789-83349798
38	MAZ	chr15:83348776-83349800	K562	blood:	n/a	n/a
39	MAX	chr15:83348708-83349869	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr15:83348848-83350313	H1-hESC	embryonic stem cell:	n/a	n/a
41	BHLHE40	chr15:83348990-83349851	K562	blood:	n/a	n/a
42	JUND	chr15:83348933-83349905	K562	blood:	n/a	n/a
43	POLR2A	chr15:83349161-83349788	MCF10A-Er-Src	breast:	n/a	n/a
44	GABPA	chr15:83348998-83349839	K562	blood:	n/a	n/a
45	MYC	chr15:83348912-83349875	MCF-7	breast:	n/a	n/a
46	POLR2A	chr15:83349147-83349790	K562	blood:	n/a	n/a
47	CTCF	chr15:83348870-83349889	K562	blood:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83349249..83350821-chr15:83733828..83735921,2	K562	blood:
2	chr15:83315715..83320562-chr15:83347753..83351536,6	K562	blood:
3	chr15:83316633..83319257-chr15:83348234..83350901,2	MCF-7	breast:
4	chr15:83347963..83350756-chr15:83406519..83408532,2	K562	blood:
5	chr15:83313759..83319278-chr15:83347483..83351536,8	K562	blood:
6	chr15:83348934..83350853-chr15:83378356..83380655,2	K562	blood:
7	chr15:83315484..83318072-chr15:83348095..83350570,4	MCF-7	breast:
8	chr15:83346733..83351654-chr15:83416978..83420559,7	MCF-7	breast:
9	chr15:83349235..83351553-chr15:83406587..83408989,2	MCF-7	breast:
10	chr15:83348154..83351401-chr15:83364138..83368453,6	MCF-7	breast:
11	chr15:83348285..83351278-chr15:83678934..83682211,3	MCF-7	breast:
12	chr15:83348193..83350766-chr15:83477443..83480779,4	MCF-7	breast:
13	chr15:83294774..83297381-chr15:83349087..83350883,2	MCF-7	breast:
14	chr15:83347977..83352145-chr15:83417264..83422141,9	MCF-7	breast:
15	chr15:83348209..83350926-chr15:83376211..83377868,2	MCF-7	breast:
16	chr15:83347908..83350889-chr3:44378735..44380988,2	MCF-7	breast:
17	chr15:83347146..83349993-chr15:83416756..83419846,3	K562	blood:
18	chr15:83330561..83333118-chr15:83349292..83351934,2	K562	blood:
19	chr15:83330156..83333342-chr15:83346386..83350515,4	MCF-7	breast:

No data

Variant related genes	Relation type
AP3B2	TF binding region
ENSG00000103723	Chromatin interaction
ENSG00000169609	Chromatin interaction
ENSG00000064726	Chromatin interaction
ENSG00000252690	Chromatin interaction
ENSG00000214575	Chromatin interaction
ENSG00000260608	Chromatin interaction
ENSG00000259462	Chromatin interaction
ENSG00000179152	Chromatin interaction
ENSG00000250988	Chromatin interaction
ENSG00000271937	Chromatin interaction
ENSG00000156232	Chromatin interaction
ENSG00000259315	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73443029	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054171	chr15:83237514-83468077	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1036950	chr15:83245326-83461261	Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1036462	chr15:83245326-83472507	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	esv34318	chr15:83283555-83453495	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	nsv1039021	chr15:83283994-83431548	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv3493740	chr15:83295897-83458896	Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	esv3493739	chr15:83296247-83458846	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
8	esv3493738	chr15:83296905-83457854	Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	esv3493742	chr15:83296993-83457792	Weak transcription Active TSS Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv817702	chr15:83299461-83457424	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	esv1808975	chr15:83307574-83360168	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv3443566	chr15:83346946-83367664	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	nsv904450	chr15:83347193-83395340	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83343000-83350000	Weak transcription	Brain Substantia Nigra	brain
2	chr15:83346400-83357400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:83346600-83357200	Weak transcription	Brain Angular Gyrus	brain
4	chr15:83347800-83357000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:83348400-83349800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr15:83348400-83350400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:83348600-83349800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr15:83348600-83349800	Active TSS	K562	blood
9	chr15:83348600-83350000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr15:83348600-83350000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr15:83348600-83350000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:83348600-83350000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:83348600-83350000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:83348600-83350000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
15	chr15:83348600-83350400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:83348600-83350400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr15:83348600-83350600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:83348800-83349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr15:83348800-83349800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr15:83348800-83349800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr15:83348800-83349800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr15:83348800-83349800	Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr15:83348800-83349800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr15:83348800-83349800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
25	chr15:83348800-83349800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr15:83348800-83349800	Flanking Active TSS	Lung	lung
27	chr15:83348800-83350000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:83348800-83350000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:83348800-83350000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr15:83348800-83350000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:83348800-83350000	Flanking Active TSS	Esophagus	oesophagus
32	chr15:83348800-83350000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr15:83348800-83350000	Bivalent/Poised TSS	Fetal Stomach	stomach
34	chr15:83348800-83350000	Flanking Active TSS	HMEC	breast
35	chr15:83348800-83350200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:83348800-83350200	Bivalent Enhancer	Spleen	Spleen
37	chr15:83348800-83350200	Bivalent/Poised TSS	NHEK	skin
38	chr15:83349000-83349800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:83349000-83349800	Bivalent/Poised TSS	Primary B cells from cord blood	blood
40	chr15:83349000-83349800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr15:83349000-83349800	Bivalent/Poised TSS	Thymus	Thymus
42	chr15:83349000-83349800	Bivalent/Poised TSS	HSMM	muscle
43	chr15:83349000-83350000	Active TSS	Gastric	stomach
44	chr15:83349200-83349800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:83349200-83349800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr15:83349200-83349800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr15:83349200-83349800	Flanking Bivalent TSS/Enh	Placenta	Placenta
48	chr15:83349200-83349800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr15:83349200-83350000	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr15:83349200-83350000	Active TSS	Rectal Mucosa Donor 29	rectum

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