Variant report

Variant	rs2122893
Chromosome Location	chr19:52205432-52205433
allele	C/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	POLR2A	chr19:52205081-52208349	K562	blood:	n/a	n/a
2	POLR2A	chr19:52205228-52208187	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:52204903-52210059	K562	blood:	n/a	n/a
4	POLR2A	chr19:52205403-52206809	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr19:52205267-52208184	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:52204570-52209007	K562	blood:	n/a	n/a
7	POLR2A	chr19:52205175-52208963	PFSK-1	brain:	n/a	n/a
8	JUND	chr19:52204803-52205947	K562	blood:	n/a	n/a
9	MAZ	chr19:52204752-52207931	K562	blood:	n/a	chr19:52206354-52206364 chr19:52205773-52205783
10	ZBTB7A	chr19:52205205-52205870	K562	blood:	n/a	chr19:52205438-52205445
11	NR2F2	chr19:52204830-52206006	K562	blood:	n/a	n/a
12	MYC	chr19:52204843-52205951	K562	blood:	n/a	chr19:52205773-52205783
13	SIN3A	chr19:52205323-52206773	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:52205075-52207903	PANC-1	pancreas:	n/a	n/a
15	POLR2A	chr19:52205153-52209028	U87	brain:	n/a	n/a
16	POLR2A	chr19:52205408-52207877	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr19:52205382-52207928	HUVEC	blood vessel:	n/a	n/a
18	TAF1	chr19:52205385-52205907	H1-hESC	embryonic stem cell:	n/a	n/a
19	IRF1	chr19:52204975-52206052	K562	blood:	n/a	chr19:52205431-52205445 chr19:52205768-52205782 chr19:52205497-52205511 chr19:52205565-52205579 chr19:52205738-52205752
20	POLR2A	chr19:52204333-52208183	SK-N-MC	brain:	n/a	n/a
21	NR2F2	chr19:52204970-52205441	K562	blood:	n/a	n/a
22	CREB1	chr19:52205423-52206207	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr19:52204780-52207896	K562	blood:	n/a	n/a
24	POLR2A	chr19:52205425-52205989	K562	blood:	n/a	n/a
25	BHLHE40	chr19:52204711-52206043	K562	blood:	n/a	n/a
26	POLR2A	chr19:52204529-52208440	K562	blood:	n/a	n/a
27	POLR2A	chr19:52205153-52209022	U87	brain:	n/a	n/a
28	IRF1	chr19:52204773-52207739	K562	blood:	n/a	chr19:52206596-52206610 chr19:52207440-52207454 chr19:52207480-52207494 chr19:52207194-52207208 chr19:52205431-52205445 chr19:52205768-52205782 chr19:52206149-52206163 chr19:52205497-52205511 chr19:52206355-52206369 chr19:52205565-52205579 chr19:52207213-52207227 chr19:52205738-52205752
29	IRF1	chr19:52205068-52206002	K562	blood:	n/a	chr19:52205431-52205445 chr19:52205768-52205782 chr19:52205497-52205511 chr19:52205565-52205579 chr19:52205738-52205752
30	CCNT2	chr19:52204702-52205894	K562	blood:	n/a	chr19:52205772-52205781 chr19:52205710-52205719 chr19:52205435-52205444 chr19:52205742-52205751
31	POLR2A	chr19:52204545-52209003	A549	lung:	n/a	n/a
32	ELF1	chr19:52205241-52205846	K562	blood:	n/a	chr19:52205710-52205722
33	POLR2A	chr19:52204703-52208998	K562	blood:	n/a	n/a
34	MYC	chr19:52204856-52205851	K562	blood:	n/a	chr19:52205773-52205783
35	POLR2A	chr19:52205073-52207855	K562	blood:	n/a	n/a
36	POLR2A	chr19:52205421-52206026	HCT-116	colon:	n/a	n/a
37	POLR2A	chr19:52205418-52206508	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr19:52205188-52206691	H1-hESC	embryonic stem cell:	n/a	n/a
39	EP300	chr19:52204955-52205534	K562	blood:	n/a	chr19:52205344-52205357
40	SP1	chr19:52205262-52206341	H1-hESC	embryonic stem cell:	n/a	chr19:52205472-52205479 chr19:52206150-52206159 chr19:52205434-52205444 chr19:52205741-52205751 chr19:52205567-52205579 chr19:52205770-52205781 chr19:52205771-52205780 chr19:52205433-52205445 chr19:52205770-52205782 chr19:52205567-52205579 chr19:52205741-52205751 chr19:52205740-52205752 chr19:52205569-52205578 chr19:52205771-52205785 chr19:52205770-52205782 chr19:52206151-52206160 chr19:52205434-52205448 chr19:52205741-52205750 chr19:52205740-52205752 chr19:52205771-52205781 chr19:52205434-52205443 chr19:52206092-52206113 chr19:52206011-52206032 chr19:52205771-52205780 chr19:52205568-52205582 chr19:52206149-52206161 chr19:52205434-52205444 chr19:52205741-52205750 chr19:52205772-52205781 chr19:52205435-52205444 chr19:52205434-52205443 chr19:52206150-52206160 chr19:52206264-52206277 chr19:52206149-52206161 chr19:52205742-52205751 chr19:52205568-52205577 chr19:52205433-52205445 chr19:52205771-52205781
41	TBP	chr19:52204986-52205969	K562	blood:	n/a	n/a
42	ARID3A	chr19:52204981-52205633	K562	blood:	n/a	n/a
43	POLR2A	chr19:52204318-52214138	PFSK-1	brain:	n/a	n/a
44	MAX	chr19:52204738-52207859	K562	blood:	n/a	chr19:52206354-52206364 chr19:52205773-52205783
45	HMGN3	chr19:52205140-52205926	K562	blood:	n/a	n/a
46	YY1	chr19:52205299-52205559	K562	blood:	n/a	n/a
47	RCOR1	chr19:52204725-52206054	K562	blood:	n/a	n/a
48	UBTF	chr19:52204800-52206049	K562	blood:	n/a	n/a
49	TEAD4	chr19:52204915-52206056	K562	blood:	n/a	n/a
50	CUX1	chr19:52205347-52205568	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52204118..52207726-chr19:52271324..52274498,3	K562	blood:
2	chr19:52196159..52199511-chr19:52202868..52206043,4	K562	blood:

Variant related genes	Relation type
SPACA6P	TF binding region
ENSG00000269959	Chromatin interaction
ENSG00000182310	Chromatin interaction
ENSG00000171049	Chromatin interaction
ENSG00000273318	Chromatin interaction
ENSG00000208008	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10408429	0.98[ASN][1000 genomes]
rs10422727	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16982947	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2290282	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28473660	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56720219	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054883	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73054899	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
2	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
3	nsv482909	chr19:52091735-52266700	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	533 gene(s)	inside rSNPs	diseases
4	nsv1064914	chr19:52103914-52231564	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	529 gene(s)	inside rSNPs	diseases
5	nsv544052	chr19:52103914-52271247	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	531 gene(s)	inside rSNPs	diseases
6	nsv1056825	chr19:52103914-52359815	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
7	nsv544053	chr19:52103914-52359815	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
8	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
9	esv1843680	chr19:52131510-52211749	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
10	nsv1066046	chr19:52147399-52271247	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
11	nsv544054	chr19:52147399-52271247	Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	525 gene(s)	inside rSNPs	diseases
12	nsv912296	chr19:52182363-52231032	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	518 gene(s)	inside rSNPs	diseases
13	nsv915725	chr19:52184488-52439676	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	541 gene(s)	inside rSNPs	diseases
14	nsv9742	chr19:52187538-52221742	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	517 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52194600-52205800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:52194600-52207000	Weak transcription	Psoas Muscle	Psoas
3	chr19:52195000-52205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:52195000-52205600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr19:52195000-52205800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:52195000-52205800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:52195200-52205800	Weak transcription	Primary T cells from cord blood	blood
8	chr19:52195400-52207200	Weak transcription	Hela-S3	cervix
9	chr19:52196200-52205600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:52196200-52205600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr19:52196400-52206400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:52196400-52206600	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr19:52196600-52205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr19:52197000-52205600	Strong transcription	Fetal Lung	lung
15	chr19:52197000-52205800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:52200200-52206000	Strong transcription	HUVEC	blood vessel
17	chr19:52200400-52205600	Weak transcription	Colon Smooth Muscle	Colon
18	chr19:52202000-52205800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:52202000-52206800	Strong transcription	Osteobl	bone
20	chr19:52202200-52205800	Weak transcription	Brain Substantia Nigra	brain
21	chr19:52202400-52205800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:52202400-52206000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr19:52202400-52207200	Weak transcription	Aorta	Aorta
24	chr19:52202600-52205800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr19:52202600-52206800	Weak transcription	Fetal Brain Male	brain
26	chr19:52202800-52205600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:52203000-52205600	Weak transcription	Brain Hippocampus Middle	brain
28	chr19:52203000-52205800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:52203000-52206800	Weak transcription	NHDF-Ad	bronchial
30	chr19:52203000-52207200	Weak transcription	HSMMtube	muscle
31	chr19:52203800-52205800	Weak transcription	Ovary	ovary
32	chr19:52204000-52206600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:52204400-52205800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:52204400-52206000	Genic enhancers	Placenta	Placenta
35	chr19:52204400-52208600	Enhancers	Fetal Heart	heart
36	chr19:52204600-52205600	Genic enhancers	Lung	lung
37	chr19:52204600-52205800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:52204600-52205800	Enhancers	Pancreas	Pancrea
39	chr19:52204600-52206400	Enhancers	Gastric	stomach
40	chr19:52204600-52206800	Enhancers	Right Atrium	heart
41	chr19:52204600-52206800	Strong transcription	NHLF	lung
42	chr19:52204800-52205600	Enhancers	Colonic Mucosa	Colon
43	chr19:52204800-52205600	Enhancers	Duodenum Mucosa	Duodenum
44	chr19:52204800-52206800	Flanking Active TSS	K562	blood
45	chr19:52204800-52207000	Genic enhancers	A549	lung
46	chr19:52204800-52208000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr19:52204800-52208200	Active TSS	H9 Cell Line	embryonic stem cell
48	chr19:52205000-52206600	Weak transcription	Fetal Kidney	kidney
49	chr19:52205000-52208000	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:52205000-52208400	Active TSS	iPS-15b Cell Line	embryonic stem cell

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