Variant report

Variant	rs73915408
Chromosome Location	chr2:11680152-11680153
allele	A/C
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	TCF12	chr2:11679288-11680463	ECC-1	luminal epithelium:	n/a	chr2:11679639-11679646
2	POLR2A	chr2:11679350-11687662	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:11679508-11680424	HepG2	liver:	n/a	n/a
4	ELF1	chr2:11679941-11680307	GM12878	blood:	n/a	n/a
5	HDAC2	chr2:11679339-11680252	MCF-7	breast:	n/a	n/a
6	TCF12	chr2:11679125-11680474	MCF-7	breast:	n/a	chr2:11679639-11679646
7	FOXM1	chr2:11679305-11680364	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr2:11679947-11680285	HepG2	liver:	n/a	n/a
9	CEBPD	chr2:11679381-11680309	HepG2	liver:	n/a	n/a
10	MAX	chr2:11680127-11680245	NB4	blood:	n/a	n/a
11	HNF4A	chr2:11679421-11680367	HepG2	liver:	n/a	n/a
12	EP300	chr2:11679356-11680378	MCF-7	breast:	n/a	n/a
13	RCOR1	chr2:11680034-11680300	HepG2	liver:	n/a	n/a
14	FOXA1	chr2:11679358-11680532	HepG2	liver:	n/a	n/a
15	CHD2	chr2:11680151-11680286	HepG2	liver:	n/a	n/a
16	MYBL2	chr2:11679241-11681220	HepG2	liver:	n/a	chr2:11679754-11679768
17	HA-E2F1	chr2:11679494-11680494	MCF-7	breast:	n/a	chr2:11680125-11680132
18	SIN3AK20	chr2:11679313-11680850	MCF-7	breast:	n/a	n/a
19	TCF7L2	chr2:11680044-11680233	Hela-S3	cervix:	n/a	chr2:11680120-11680129 chr2:11680119-11680129 chr2:11680118-11680132 chr2:11680121-11680130 chr2:11680117-11680133 chr2:11680117-11680133
20	FOXA1	chr2:11679254-11680547	HepG2	liver:	n/a	n/a
21	MBD4	chr2:11679217-11681590	HepG2	liver:	n/a	n/a
22	NR2F2	chr2:11679441-11680154	MCF-7	breast:	n/a	n/a
23	REST	chr2:11679399-11680415	HepG2	liver:	n/a	n/a
24	HDAC2	chr2:11679276-11680368	HepG2	liver:	n/a	n/a
25	POLR2A	chr2:11679174-11683315	HepG2	liver:	n/a	n/a
26	TCF7L2	chr2:11680008-11680312	HEK293	kidney:	n/a	chr2:11680120-11680129 chr2:11680119-11680129 chr2:11680118-11680132 chr2:11680121-11680130 chr2:11680117-11680133 chr2:11680117-11680133
27	MYBL2	chr2:11679181-11681286	HepG2	liver:	n/a	chr2:11679754-11679768
28	EP300	chr2:11679262-11680437	HepG2	liver:	n/a	n/a
29	JUND	chr2:11679442-11680433	T-47D	breast:	n/a	n/a
30	HEY1	chr2:11679492-11681301	HepG2	liver:	n/a	chr2:11679574-11679583
31	NFIC	chr2:11679300-11680812	HepG2	liver:	n/a	n/a
32	ESR1	chr2:11679612-11680212	ECC-1	luminal epithelium:	n/a	chr2:11679801-11679818 chr2:11679801-11679816
33	TAF1	chr2:11679421-11680324	HepG2	liver:	n/a	n/a
34	PML	chr2:11679443-11684506	MCF-7	breast:	n/a	n/a
35	ZNF217	chr2:11679512-11680481	MCF-7	breast:	n/a	n/a
36	FOXA1	chr2:11679361-11680466	HepG2	liver:	n/a	n/a
37	TCF7L2	chr2:11679483-11680353	MCF-7	breast:	n/a	chr2:11679681-11679697 chr2:11680120-11680129 chr2:11680119-11680129 chr2:11680118-11680132 chr2:11679681-11679697 chr2:11680121-11680130 chr2:11680117-11680133 chr2:11679685-11679695 chr2:11679684-11679693 chr2:11679682-11679696 chr2:11680117-11680133
38	SRF	chr2:11679404-11680245	MCF-7	breast:	n/a	n/a
39	NFIC	chr2:11679363-11681515	HepG2	liver:	n/a	n/a
40	RAD21	chr2:11679527-11680531	HepG2	liver:	n/a	chr2:11679871-11679885
41	ESR1	chr2:11679277-11680427	ECC-1	luminal epithelium:	n/a	chr2:11679801-11679818 chr2:11679801-11679816
42	MAFK	chr2:11679588-11680238	HepG2	liver:	n/a	n/a
43	EP300	chr2:11679494-11680628	HepG2	liver:	n/a	n/a
44	HEY1	chr2:11679147-11681410	HepG2	liver:	n/a	chr2:11679574-11679583
45	JUND	chr2:11679373-11680981	MCF-7	breast:	n/a	n/a
46	POLR2A	chr2:11679178-11680296	MCF-7	breast:	n/a	n/a
47	REST	chr2:11679552-11680173	MCF-7	breast:	n/a	n/a
48	FOXM1	chr2:11679356-11680349	MCF-7	breast:	n/a	n/a
49	POLR2A	chr2:11679291-11681531	HepG2	liver:	n/a	n/a
50	MAX	chr2:11679186-11681301	HepG2	liver:	n/a	chr2:11679573-11679583 chr2:11679574-11679583 chr2:11679572-11679585 chr2:11679573-11679584 chr2:11679573-11679584

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11680144-11680194	HepG2	liver:	n/a
2	chr2:11680144-11680194	K562	blood:	n/a
3	chr2:11680144-11680194	MCF-7	breast:	n/a
4	chr2:11680144-11680194	AG10803	skin:	n/a
5	chr2:11680144-11680194	HCM	heart:	n/a
6	chr2:11680144-11680194	HNPCEpiC	eye:	n/a
7	chr2:11680144-11680194	LNCaP	prostate:	n/a
8	chr2:11680144-11680194	ProgFib	skin:	n/a
9	chr2:11680144-11680194	HUVEC	blood vessel:	n/a
10	chr2:11680144-11680194	AG09319	gingival:	n/a
11	chr2:11680144-11680194	SK-N-SH	brain:	n/a
12	chr2:11680144-11680194	NT2-D1	testis:	n/a
13	chr2:11680144-11680194	HRE	kidney:	n/a
14	chr2:11680144-11680194	HCT-116	colon:	n/a
15	chr2:11680144-11680194	HEEpiC	esophagus:	n/a
16	chr2:11680144-11680194	NHDF-neo	bronchial:	n/a
17	chr2:11680144-11680194	NH-A	brain:	n/a
18	chr2:11680144-11680194	GM12892	blood:	n/a
19	chr2:11680144-11680194	AG04449	skin:	fetal
20	chr2:11680144-11680194	HIPEpiC	eye:	n/a
21	chr2:11680144-11680194	BE2_C	brain:	n/a
22	chr2:11680144-11680194	HL-60	blood:	n/a
23	chr2:11680144-11680194	BJ	skin:	n/a
24	chr2:11680144-11680194	SK-N-MC	brain:	n/a
25	chr2:11680144-11680194	AoSMC	blood vessel:	n/a
26	chr2:11680144-11680194	HMEC	breast:	n/a
27	chr2:11680144-11680194	SKMC	muscle:	n/a
28	chr2:11680144-11680194	MCF10A-Er-Src	breast:	n/a
29	chr2:11680144-11680194	PFSK-1	brain:	n/a
30	chr2:11680144-11680194	RPTEC	kidney:	n/a
31	chr2:11680144-11680194	Caco-2	colon:	n/a
32	chr2:11680144-11680194	SAEC	small airway:	n/a
33	chr2:11680144-11680194	A549	lung:	n/a
34	chr2:11680144-11680194	IMR90	lung:	fetal
35	chr2:11680144-11680194	U87	brain:	n/a
36	chr2:11680144-11680194	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:11680144-11680194	GM06990	blood:	n/a
38	chr2:11680144-11680194	PANC-1	pancreas:	n/a
39	chr2:11680144-11680194	H1-hESC	embryonic stem cell:	embryo
40	chr2:11680144-11680194	GM12891	blood:	n/a
41	chr2:11680144-11680194	T-47D	breast:	n/a
42	chr2:11680144-11680194	CMK	blood:	n/a
43	chr2:11680144-11680194	HCPEpiC	choroid plexus:	n/a
44	chr2:11680144-11680194	HRPEpiC	eye:	n/a
45	chr2:11680144-11680194	GM12878	blood:	n/a
46	chr2:11680144-11680194	PrEC	prostate:	n/a
47	chr2:11680144-11680194	ovcar-3	ovarian:	n/a
48	chr2:11680144-11680194	HCF	heart:	n/a
49	chr2:11680144-11680194	AG09309	skin:	n/a
50	chr2:11680144-11680194	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:
2	chr2:11678223..11684922-chr2:11747400..11752385,8	MCF-7	breast:
3	chr2:11482684..11486384-chr2:11678704..11682899,6	MCF-7	breast:
4	chr2:11680129..11682138-chr5:52854884..52857698,2	MCF-7	breast:
5	chr2:11678361..11681033-chr2:11884649..11887386,2	MCF-7	breast:
6	chr10:123871436..123873974-chr2:11678144..11680211,2	MCF-7	breast:
7	chr2:11680141..11683060-chr20:47442471..47445279,2	MCF-7	breast:
8	chr2:11679301..11682529-chr6:32937680..32940276,3	MCF-7	breast:
9	chr17:57913651..57915387-chr2:11679658..11682413,2	MCF-7	breast:
10	chr19:54640448..54642117-chr2:11679862..11682634,2	MCF-7	breast:

Variant related genes	Relation type
GREB1	TF binding region
GREB1	CpG island
ENSG00000062716	Chromatin interaction
ENSG00000088038	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000265583	Chromatin interaction
ENSG00000164258	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000138162	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000230790	Chromatin interaction
ENSG00000124126	Chromatin interaction
ENSG00000204256	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56393100	1.00[AMR][1000 genomes]
rs57683597	1.00[AMR][1000 genomes]
rs61394202	1.00[AMR][1000 genomes]
rs73915405	1.00[AMR][1000 genomes]
rs73915406	1.00[AMR][1000 genomes]
rs73915414	1.00[AMR][1000 genomes]
rs73915415	1.00[AMR][1000 genomes]
rs73917204	1.00[AMR][1000 genomes]
rs73917243	1.00[AMR][1000 genomes]
rs73917246	1.00[AMR][1000 genomes]
rs73917247	1.00[AMR][1000 genomes]

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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3439617	chr2:11677926-11680474	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11676400-11681800	Weak transcription	Gastric	stomach
2	chr2:11678000-11683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:11678200-11681000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
5	chr2:11679000-11680600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11679000-11683200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:11679000-11683400	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:11679200-11680200	Flanking Active TSS	HepG2	liver
9	chr2:11679200-11680400	Enhancers	Left Ventricle	heart
10	chr2:11679200-11680400	Enhancers	Right Atrium	heart
11	chr2:11679200-11681200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:11679200-11681200	Enhancers	Brain Substantia Nigra	brain
13	chr2:11679200-11682800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11679200-11682800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:11679200-11682800	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:11679200-11683000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:11679200-11683200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:11679200-11683400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:11679400-11680200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:11679400-11680400	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr2:11679400-11680800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:11679400-11681000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:11679400-11681000	Enhancers	Fetal Stomach	stomach
24	chr2:11679400-11681200	Enhancers	Brain Angular Gyrus	brain
25	chr2:11679400-11681200	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:11679400-11681200	Enhancers	Fetal Lung	lung
27	chr2:11679400-11681200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr2:11679400-11682000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:11679400-11682200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:11679400-11682800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:11679400-11683200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:11679400-11683400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr2:11679400-11683400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:11679600-11680200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:11679600-11680600	Enhancers	Brain Germinal Matrix	brain
36	chr2:11679600-11680800	Enhancers	Psoas Muscle	Psoas
37	chr2:11679600-11681200	Enhancers	Fetal Heart	heart
38	chr2:11679600-11682600	Enhancers	Brain Anterior Caudate	brain
39	chr2:11679600-11684400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:11679800-11680200	Flanking Active TSS	Pancreas	Pancrea
41	chr2:11679800-11680400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr2:11679800-11680400	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr2:11679800-11680600	Flanking Active TSS	Liver	Liver
44	chr2:11679800-11680800	Enhancers	Fetal Kidney	kidney
45	chr2:11679800-11681000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:11679800-11681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:11679800-11682400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:11679800-11684800	Active TSS	Ovary	ovary
49	chr2:11680000-11680200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:11680000-11680400	Enhancers	Fetal Brain Male	brain

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