Variant report

Variant	rs11111794
Chromosome Location	chr12:104199070-104199071
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:152)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:152 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:104198644-104199455	SK-N-SH	brain:	n/a	n/a
2	FOSL2	chr12:104198637-104199437	MCF-7	breast:	n/a	n/a
3	TAL1	chr12:104198794-104199178	K562	blood:	n/a	n/a
4	FOSL2	chr12:104198690-104199179	MCF-7	breast:	n/a	n/a
5	TEAD4	chr12:104198658-104199737	K562	blood:	n/a	n/a
6	TCF12	chr12:104198593-104199462	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr12:104198783-104199099	Hela-S3	cervix:	n/a	n/a
8	PBX3	chr12:104198681-104199311	SK-N-SH	brain:	n/a	n/a
9	MAFK	chr12:104198754-104199173	K562	blood:	n/a	chr12:104199101-104199112
10	NFIC	chr12:104198660-104199466	SK-N-SH	brain:	n/a	n/a
11	RXRA	chr12:104198746-104199295	SK-N-SH	brain:	n/a	chr12:104199077-104199091
12	BRCA1	chr12:104198806-104199226	Hela-S3	cervix:	n/a	n/a
13	JUND	chr12:104198778-104199178	T-47D	breast:	n/a	chr12:104198870-104198881
14	FOSL2	chr12:104198729-104199177	HepG2	liver:	n/a	n/a
15	FOSL2	chr12:104198664-104199447	A549	lung:	n/a	n/a
16	RCOR1	chr12:104198769-104199418	K562	blood:	n/a	n/a
17	JUN	chr12:104198655-104199630	K562	blood:	n/a	n/a
18	RXRA	chr12:104198649-104199277	SK-N-SH	brain:	n/a	chr12:104199077-104199091
19	JUND	chr12:104198667-104199536	K562	blood:	n/a	chr12:104198870-104198881
20	NFIC	chr12:104198663-104199183	SK-N-SH	brain:	n/a	n/a
21	NR2F2	chr12:104198543-104199706	K562	blood:	n/a	n/a
22	MAX	chr12:104198646-104199434	A549	lung:	n/a	n/a
23	JUND	chr12:104198695-104199506	Hela-S3	cervix:	n/a	chr12:104198870-104198881
24	JUND	chr12:104198587-104199597	A549	lung:	n/a	chr12:104198870-104198881
25	EP300	chr12:104198516-104199308	SK-N-SH	brain:	n/a	chr12:104199174-104199184
26	FOSL2	chr12:104198338-104199587	A549	lung:	n/a	n/a
27	FOS	chr12:104198692-104199509	K562	blood:	n/a	chr12:104198870-104198881
28	JUN	chr12:104198678-104199520	K562	blood:	n/a	n/a
29	JUN	chr12:104198705-104199516	K562	blood:	n/a	n/a
30	JUND	chr12:104198679-104199221	MCF-7	breast:	n/a	chr12:104198870-104198881
31	EP300	chr12:104198745-104199072	HepG2	liver:	n/a	n/a
32	JUN	chr12:104198727-104199461	K562	blood:	n/a	n/a
33	STAT5A	chr12:104198700-104199119	K562	blood:	n/a	n/a
34	PRDM1	chr12:104198791-104199179	Hela-S3	cervix:	n/a	n/a
35	MAX	chr12:104198810-104199286	Hela-S3	cervix:	n/a	n/a
36	USF1	chr12:104198772-104199104	A549	lung:	n/a	n/a
37	EP300	chr12:104198825-104199136	HepG2	liver:	n/a	n/a
38	STAT5A	chr12:104198664-104199299	K562	blood:	n/a	n/a
39	FOSL2	chr12:104198631-104199091	HepG2	liver:	n/a	n/a
40	ATF3	chr12:104198713-104199538	K562	blood:	n/a	n/a
41	CEBPD	chr12:104198785-104199183	K562	blood:	n/a	n/a
42	CEBPB	chr12:104198711-104199517	Hela-S3	cervix:	n/a	n/a
43	FOSL2	chr12:104198618-104199452	SK-N-SH	brain:	n/a	n/a
44	JUND	chr12:104198662-104200281	SK-N-SH	brain:	n/a	chr12:104198870-104198881
45	CCNT2	chr12:104198848-104199366	K562	blood:	n/a	n/a
46	NR2F2	chr12:104198679-104199513	K562	blood:	n/a	n/a
47	SP1	chr12:104198675-104199276	K562	blood:	n/a	n/a
48	FOS	chr12:104198700-104199537	MCF10A-Er-Src	breast:	n/a	chr12:104198870-104198881
49	JUND	chr12:104198680-104199444	SK-N-SH	brain:	n/a	chr12:104198870-104198881
50	FOXA2	chr12:104198683-104199509	A549	lung:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104197681..104199804-chr12:104233310..104235105,2	K562	blood:
2	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
3	chr12:104183990..104193430-chr12:104193641..104204611,16	MCF-7	breast:
4	chr12:104194168..104195687-chr12:104197418..104199673,2	K562	blood:
5	chr12:104198469..104201339-chr12:104203097..104205273,3	MCF-7	breast:
6	chr12:104198690..104201561-chr12:104203107..104206456,4	K562	blood:
7	chr12:104198918..104202818-chr12:104225755..104230550,5	K562	blood:
8	chr12:104198690..104200506-chr12:104204020..104206335,2	K562	blood:
9	chr12:104197525..104199804-chr12:104233310..104236273,2	K562	blood:
10	chr12:104196315..104200600-chr12:104233023..104235965,5	MCF-7	breast:
11	chr12:104190724..104195360-chr12:104196501..104199658,6	MCF-7	breast:

No data

Variant related genes	Relation type
NT5DC3	TF binding region
ENSG00000111696	Chromatin interaction
ENSG00000257327	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10082821	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778288	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778289	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861110	0.90[EUR][1000 genomes]
rs10861111	0.96[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10861113	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10861114	0.90[EUR][1000 genomes]
rs10861115	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861116	0.89[EUR][1000 genomes]
rs10861117	0.90[EUR][1000 genomes]
rs10861118	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861119	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111760	1.00[ASN][1000 genomes]
rs11111790	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111797	0.92[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11111802	0.96[AFR][1000 genomes]
rs11111803	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11111806	0.90[EUR][1000 genomes]
rs11111807	0.90[EUR][1000 genomes]
rs12299784	0.89[EUR][1000 genomes]
rs12320424	0.90[EUR][1000 genomes]
rs12368209	1.00[ASN][1000 genomes]
rs12369835	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12426059	0.81[ASN][1000 genomes]
rs1370782	0.89[EUR][1000 genomes]
rs1370783	0.89[EUR][1000 genomes]
rs17034657	0.81[EUR][1000 genomes]
rs3087891	1.00[ASN][1000 genomes]
rs4964197	0.89[EUR][1000 genomes]
rs4964540	0.90[EUR][1000 genomes]
rs4964571	0.90[EUR][1000 genomes]
rs4964574	0.90[EUR][1000 genomes]
rs4964605	0.90[EUR][1000 genomes]
rs4964787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539102	0.90[EUR][1000 genomes]
rs7138889	1.00[ASN][1000 genomes]
rs7315948	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175816	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11111794	NT5DC3	cis	Whole Blood	GTEx
rs11111794	RP11-341G23.4	cis	Whole Blood	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104163600-104204200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:104167200-104199800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104171800-104216000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:104173800-104208800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:104177800-104207600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr12:104187400-104206800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:104187800-104212600	Weak transcription	GM12878-XiMat	blood
8	chr12:104190800-104201800	Weak transcription	Gastric	stomach
9	chr12:104190800-104204400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:104191000-104209800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:104191000-104211800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:104192000-104200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:104192600-104206600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:104192800-104199600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr12:104193000-104217600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:104193600-104204000	Weak transcription	Primary T cells from cord blood	blood
17	chr12:104194000-104206800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:104194400-104207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:104194600-104199400	Weak transcription	Esophagus	oesophagus
20	chr12:104194600-104199600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr12:104194600-104199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:104194600-104203800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:104194600-104207000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:104194600-104214600	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:104194600-104214800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:104194800-104207200	Weak transcription	Adipose Nuclei	Adipose
27	chr12:104194800-104215200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr12:104195000-104200800	Weak transcription	Spleen	Spleen
29	chr12:104195000-104201800	Weak transcription	Stomach Mucosa	stomach
30	chr12:104195000-104203600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:104195000-104204400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr12:104195000-104205200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:104195000-104207800	Weak transcription	Fetal Lung	lung
34	chr12:104195000-104208600	Weak transcription	Left Ventricle	heart
35	chr12:104195000-104213800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:104195200-104199600	Weak transcription	Liver	Liver
37	chr12:104195600-104199600	Weak transcription	Primary B cells from cord blood	blood
38	chr12:104195800-104208400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:104196000-104199600	Weak transcription	Fetal Intestine Small	intestine
40	chr12:104196000-104203600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr12:104196400-104200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:104196400-104202200	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:104196400-104203400	Weak transcription	Fetal Stomach	stomach
44	chr12:104196400-104205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:104196400-104213600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr12:104196400-104214800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:104196400-104221800	Weak transcription	Brain Anterior Caudate	brain
48	chr12:104196600-104199400	Weak transcription	Right Atrium	heart
49	chr12:104196600-104200800	Weak transcription	Fetal Muscle Trunk	muscle
50	chr12:104196600-104200800	Weak transcription	Pancreas	Pancrea

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