Variant report

Variant	rs45581732
Chromosome Location	chr2:191861179-191861180
allele	A/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	RAD21	chr2:191861073-191861604	MCF-7	breast:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
2	CTCF	chr2:191860849-191861655	SK-N-SH	brain:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
3	CTCF	chr2:191861124-191861382	MCF-7	breast:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
4	CTCF	chr2:191860882-191861565	MCF-7	breast:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
5	CTCF	chr2:191861140-191861290	NHDF-neo	bronchial:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
6	CTCF	chr2:191861140-191861371	Spleen_OC	spleen:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
7	CTCF	chr2:191861135-191861386	GM12878	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
8	SMC3	chr2:191860943-191861593	SK-N-SH	brain:	n/a	chr2:191861262-191861276
9	CTCF	chr2:191861154-191861391	T-47D	breast:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
10	CTCF	chr2:191861067-191861457	IMR90	lung:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
11	RAD21	chr2:191861174-191861332	K562	blood:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
12	CTCF	chr2:191861176-191861338	GM10248	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
13	ZNF143	chr2:191861138-191861424	K562	blood:	n/a	n/a
14	CTCF	chr2:191861174-191861347	GM13977	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
15	POLR2A	chr2:191860421-191862663	GM15510	blood:	n/a	n/a
16	CTCF	chr2:191861116-191861381	MCF-7	breast:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
17	POLR2A	chr2:191861011-191861428	GM12878	blood:	n/a	n/a
18	POLR2A	chr2:191861111-191861296	GM12878	blood:	n/a	n/a
19	ZNF143	chr2:191861097-191861407	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr2:191861123-191861385	GM19238	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
21	CTCF	chr2:191861160-191861310	GM06990	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
22	CTCF	chr2:191861147-191861357	A549	lung:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
23	CTCF	chr2:191861114-191861400	Gliobla	brain:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
24	POLR2A	chr2:191860330-191862676	GM12878	blood:	n/a	n/a
25	RAD21	chr2:191860985-191861452	A549	lung:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
26	POLR2A	chr2:191859723-191862815	K562	blood:	n/a	n/a
27	CTCF	chr2:191861140-191861290	HCM	heart:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
28	CTCF	chr2:191861160-191861310	AG10803	skin:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
29	CTCF	chr2:191861027-191861443	H1-hESC	embryonic stem cell:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
30	CTCF	chr2:191861160-191861310	GM12865	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
31	CTCF	chr2:191861100-191861404	A549	lung:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
32	CTCF	chr2:191861160-191861310	AG09319	gingival:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
33	CTCF	chr2:191861154-191861345	GM19239	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
34	CTCF	chr2:191861160-191861310	GM12873	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
35	CTCF	chr2:191861140-191861290	GM12874	blood:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
36	POLR2A	chr2:191859690-191862738	GM12891	blood:	n/a	n/a
37	POLR2A	chr2:191860359-191863178	GM18951	blood:	n/a	n/a
38	RAD21	chr2:191861052-191861442	A549	lung:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
39	POLR2A	chr2:191859781-191862712	K562	blood:	n/a	n/a
40	RAD21	chr2:191861001-191861548	HCT-116	colon:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
41	POLR2A	chr2:191859693-191863094	GM12892	blood:	n/a	n/a
42	RAD21	chr2:191860918-191861555	SK-N-SH	brain:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
43	RAD21	chr2:191861069-191861463	HepG2	liver:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
44	CTCF	chr2:191861148-191861370	LNCaP	prostate:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
45	CTCF	chr2:191861159-191861365	NHEK	skin:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
46	CTCF	chr2:191861096-191861400	MCF-7	breast:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
47	CTCF	chr2:191861140-191861290	A549	lung:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
48	CTCF	chr2:191860973-191861554	A549	lung:	n/a	chr2:191861260-191861278 chr2:191861263-191861276 chr2:191861263-191861272 chr2:191861262-191861283 chr2:191861214-191861222 chr2:191861261-191861277
49	RAD21	chr2:191860955-191861606	HCT-116	colon:	n/a	chr2:191861214-191861223 chr2:191861214-191861226 chr2:191861261-191861280
50	POLR2A	chr2:191856742-191863466	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:191861148-191861198	SAEC	small airway:	n/a
2	chr2:191861148-191861198	NHBE	bronchial:	n/a
3	chr2:191861148-191861198	MCF10A-Er-Src	breast:	n/a
4	chr2:191861148-191861198	GM19239	blood:	n/a
5	chr2:191861148-191861198	HAEpiC	amniotic membrane:	n/a
6	chr2:191861148-191861198	GM12891	blood:	n/a
7	chr2:191861148-191861198	H1-hESC	embryonic stem cell:	embryo
8	chr2:191861148-191861198	HRPEpiC	eye:	n/a
9	chr2:191861148-191861198	HNPCEpiC	eye:	n/a
10	chr2:191861148-191861198	Jurkat	blood:	n/a
11	chr2:191861148-191861198	MCF-7	breast:	n/a
12	chr2:191861148-191861198	AoSMC	blood vessel:	n/a
13	chr2:191861148-191861198	HIPEpiC	eye:	n/a
14	chr2:191861148-191861198	BJ	skin:	n/a
15	chr2:191861148-191861198	T-47D	breast:	n/a
16	chr2:191861148-191861198	AG09309	skin:	n/a
17	chr2:191861148-191861198	SK-N-SH	brain:	n/a
18	chr2:191861148-191861198	GM12878	blood:	n/a
19	chr2:191861148-191861198	BE2_C	brain:	n/a
20	chr2:191861148-191861198	U87	brain:	n/a
21	chr2:191861148-191861198	HL-60	blood:	n/a
22	chr2:191861148-191861198	AG10803	skin:	n/a
23	chr2:191861148-191861198	HEEpiC	esophagus:	n/a
24	chr2:191861148-191861198	HepG2	liver:	n/a
25	chr2:191861148-191861198	SK-N-MC	brain:	n/a
26	chr2:191861148-191861198	GM06990	blood:	n/a
27	chr2:191861148-191861198	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:191861148-191861198	PrEC	prostate:	n/a
29	chr2:191861148-191861198	AG04450	lung:	fetal
30	chr2:191861148-191861198	NHDF-neo	bronchial:	n/a
31	chr2:191861148-191861198	GM12892	blood:	n/a
32	chr2:191861148-191861198	HUVEC	blood vessel:	n/a
33	chr2:191861148-191861198	PANC-1	pancreas:	n/a
34	chr2:191861148-191861198	HRE	kidney:	n/a
35	chr2:191861148-191861198	HCF	heart:	n/a
36	chr2:191861148-191861198	HEK293	kidney:	embryo
37	chr2:191861148-191861198	HCM	heart:	n/a
38	chr2:191861148-191861198	ovcar-3	ovarian:	n/a
39	chr2:191861148-191861198	ECC-1	luminal epithelium:	n/a
40	chr2:191861148-191861198	AG09319	gingival:	n/a
41	chr2:191861148-191861198	K562	blood:	n/a
42	chr2:191861148-191861198	Hepatocyte	liver:	n/a
43	chr2:191861148-191861198	HCPEpiC	choroid plexus:	n/a
44	chr2:191861148-191861198	IMR90	lung:	fetal
45	chr2:191861148-191861198	NH-A	brain:	n/a
46	chr2:191861148-191861198	PFSK-1	brain:	n/a
47	chr2:191861148-191861198	SK-N-SH_RA	brain:	n/a
48	chr2:191861148-191861198	HRCEpiC	kidney:	n/a
49	chr2:191861148-191861198	SKMC	muscle:	n/a
50	chr2:191861148-191861198	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191828792..191830565-chr2:191860903..191862708,2	K562	blood:
2	chr2:191860845..191861649-chr2:191895089..191895924,4	MCF-7	breast:
3	chr2:191839557..191841890-chr2:191859602..191862348,2	MCF-7	breast:
4	chr2:191860800..191861733-chr2:191894965..191896207,3	K562	blood:
5	chr2:191859729..191861562-chr2:191872000..191874100,2	K562	blood:
6	chr2:191852001..191852517-chr2:191861020..191861763,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229023	TF binding region
ENSG00000229023	CpG island
ENSG00000115415	Chromatin interaction
ENSG00000231858	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16832940	1.00[EUR][1000 genomes]
rs16833146	1.00[EUR][1000 genomes]
rs3024863	1.00[EUR][1000 genomes]
rs3024881	1.00[EUR][1000 genomes]
rs41363648	1.00[EUR][1000 genomes]
rs41381545	1.00[EUR][1000 genomes]
rs41383548	1.00[EUR][1000 genomes]
rs41390345	1.00[EUR][1000 genomes]
rs41429347	1.00[EUR][1000 genomes]
rs41446247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41457850	1.00[EUR][1000 genomes]
rs41463952	1.00[EUR][1000 genomes]
rs41508653	1.00[EUR][1000 genomes]
rs45582434	1.00[EUR][1000 genomes]
rs45625838	1.00[EUR][1000 genomes]
rs56722217	1.00[EUR][1000 genomes]
rs57478729	1.00[EUR][1000 genomes]
rs58224506	1.00[EUR][1000 genomes]
rs58801716	1.00[EUR][1000 genomes]
rs60491063	1.00[EUR][1000 genomes]
rs61276563	1.00[EUR][1000 genomes]
rs6712504	1.00[EUR][1000 genomes]
rs6721631	1.00[EUR][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	nsv584065	chr2:191644537-191875901	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv999391	chr2:191749035-191921931	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv834493	chr2:191811373-191974240	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv998232	chr2:191841497-192020361	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191824200-191877200	Strong transcription	HSMM	muscle
2	chr2:191824600-191865400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr2:191825400-191874200	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr2:191825600-191861800	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:191826400-191875600	Strong transcription	Duodenum Mucosa	Duodenum
6	chr2:191826600-191873000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:191826800-191868800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:191826800-191874600	Strong transcription	NHDF-Ad	bronchial
9	chr2:191827600-191873600	Strong transcription	Brain Hippocampus Middle	brain
10	chr2:191828200-191872000	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:191828800-191867000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:191828800-191875200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:191829000-191868200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:191829200-191876000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:191829200-191878200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:191829400-191868000	Strong transcription	Primary B cells from cord blood	blood
17	chr2:191829400-191870800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr2:191829400-191875800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:191829600-191875600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:191831000-191873800	Strong transcription	HepG2	liver
21	chr2:191832600-191876200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:191833000-191862000	Strong transcription	Rectal Smooth Muscle	rectum
23	chr2:191833000-191874200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:191833800-191865600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:191834200-191861400	Strong transcription	Stomach Smooth Muscle	stomach
26	chr2:191834600-191861600	Strong transcription	Colon Smooth Muscle	Colon
27	chr2:191836000-191861600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:191836000-191868400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:191836200-191861400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:191836200-191861400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr2:191839600-191875600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:191840400-191873200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:191844200-191872400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:191845400-191870800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:191845400-191872000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:191845400-191874000	Strong transcription	NHLF	lung
37	chr2:191845400-191875600	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:191845400-191875800	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr2:191845600-191861400	Strong transcription	A549	lung
40	chr2:191845600-191873000	Strong transcription	Primary B cells from peripheral blood	blood
41	chr2:191845800-191863200	Strong transcription	Fetal Intestine Large	intestine
42	chr2:191846000-191861800	Strong transcription	Spleen	Spleen
43	chr2:191846000-191876800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:191846600-191866000	Strong transcription	Fetal Stomach	stomach
45	chr2:191846800-191864800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr2:191846800-191868400	Strong transcription	Fetal Thymus	thymus
47	chr2:191846800-191875600	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:191847400-191865800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:191847600-191864400	Strong transcription	Brain Substantia Nigra	brain
50	chr2:191847800-191876800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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