Variant report

Variant	rs2234371
Chromosome Location	chr19:36206986-36206987
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	CTCF	chr19:36206852-36207035	GM12878	blood:	n/a	n/a
2	MAX	chr19:36206973-36209012	MCF-7	breast:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
3	MTA3	chr19:36203117-36208944	GM12878	blood:	n/a	n/a
4	MAZ	chr19:36206845-36210143	IMR90	lung:	n/a	chr19:36207976-36207985 chr19:36209880-36209889 chr19:36207972-36207982 chr19:36209323-36209333 chr19:36207294-36207303
5	POLR2A	chr19:36206895-36207152	GM12891	blood:	n/a	n/a
6	POLR2A	chr19:36203385-36212934	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:36206824-36207654	GM12878	blood:	n/a	n/a
8	E2F6	chr19:36206852-36208086	H1-hESC	embryonic stem cell:	n/a	chr19:36207550-36207561
9	TCF12	chr19:36206646-36208991	A549	lung:	n/a	chr19:36208711-36208718 chr19:36206994-36207002
10	POLR2A	chr19:36202991-36212995	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:36206853-36209736	A549	lung:	n/a	n/a
12	CREB1	chr19:36206878-36209135	HepG2	liver:	n/a	n/a
13	ELF1	chr19:36206663-36208964	GM12878	blood:	n/a	chr19:36208794-36208803 chr19:36208454-36208466
14	POLR2A	chr19:36206929-36209168	A549	lung:	n/a	n/a
15	REST	chr19:36206917-36208688	A549	lung:	n/a	n/a
16	SMARCB1	chr19:36206972-36208778	Hela-S3	cervix:	n/a	chr19:36208644-36208653
17	STAT5A	chr19:36206634-36208827	GM12878	blood:	n/a	chr19:36208645-36208665 chr19:36206638-36206650 chr19:36206959-36206967 chr19:36207968-36207980
18	MAX	chr19:36206935-36207117	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:36206069-36208868	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:36206681-36207292	GM12878	blood:	n/a	n/a
21	MAX	chr19:36206864-36208825	H1-hESC	embryonic stem cell:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
22	CTCF	chr19:36206919-36208449	GM12892	blood:	n/a	chr19:36207999-36208009 chr19:36207996-36208014 chr19:36207991-36208012 chr19:36207997-36208013 chr19:36207998-36208011 chr19:36208002-36208011
23	POLR2A	chr19:36206371-36208820	GM12892	blood:	n/a	n/a
24	POLR2A	chr19:36202895-36208735	GM12878	blood:	n/a	n/a
25	CTCF	chr19:36206940-36207090	HepG2	liver:	n/a	n/a
26	MAX	chr19:36206759-36209002	HepG2	liver:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
27	POLR2A	chr19:36206860-36208063	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr19:36206900-36208970	H1-hESC	embryonic stem cell:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303
29	STAT5A	chr19:36206986-36207378	GM12878	blood:	n/a	n/a
30	E2F6	chr19:36206977-36208823	A549	lung:	n/a	chr19:36207550-36207561
31	POLR2A	chr19:36206647-36210191	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:36206902-36210099	GM19099	blood:	n/a	n/a
33	POLR2A	chr19:36203580-36208801	GM12891	blood:	n/a	n/a
34	POLR2A	chr19:36206809-36209640	GM18526	blood:	n/a	n/a
35	POLR2A	chr19:36205792-36208821	GM12891	blood:	n/a	n/a
36	CTCF	chr19:36206935-36207010	GM19238	blood:	n/a	n/a
37	ZEB1	chr19:36206588-36208656	GM12878	blood:	n/a	chr19:36206754-36206765 chr19:36206903-36206916 chr19:36206754-36206765
38	MXI1	chr19:36206956-36210393	IMR90	lung:	n/a	n/a
39	FOSL2	chr19:36206928-36208550	A549	lung:	n/a	n/a
40	POLR2A	chr19:36206958-36208817	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr19:36206980-36209994	K562	blood:	n/a	n/a
42	EBF1	chr19:36206791-36207125	GM12878	blood:	n/a	n/a
43	PBX3	chr19:36206867-36208732	A549	lung:	n/a	n/a
44	ZEB1	chr19:36206956-36207169	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:36204962-36211001	GM18505	blood:	n/a	n/a
46	E2F6	chr19:36206859-36208641	H1-hESC	embryonic stem cell:	n/a	chr19:36207550-36207561
47	POLR2A	chr19:36206933-36208979	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr19:36206885-36207135	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:36203522-36210520	GM12878	blood:	n/a	n/a
50	MAX	chr19:36206916-36209032	A549	lung:	n/a	chr19:36207976-36207985 chr19:36207972-36207982 chr19:36207294-36207303

No.	Distal block	Cell Line	Cell type
1	chr19:36184398..36185696-chr19:36206796..36208519,15	MCF-7	breast:
2	chr19:36034283..36038136-chr19:36206970..36210335,6	K562	blood:
3	chr19:36201857..36203426-chr19:36205188..36208060,2	MCF-7	breast:
4	chr19:35739392..35741271-chr19:36206536..36208531,2	MCF-7	breast:
5	chr19:35752101..35756218-chr19:36205472..36209304,3	MCF-7	breast:
6	chr19:36206900..36208442-chr19:36388262..36390598,2	MCF-7	breast:
7	chr19:36205479..36207948-chr19:36393989..36396293,2	K562	blood:
8	chr19:36205889..36208076-chr19:36208426..36210267,2	MCF-7	breast:
9	chr19:36034638..36039287-chr19:36205354..36210335,7	K562	blood:
10	chr19:36039298..36042202-chr19:36205627..36208173,3	K562	blood:
11	chr19:36204664..36206261-chr19:36206379..36207962,2	K562	blood:
12	chr19:36133481..36135868-chr19:36206189..36210381,3	K562	blood:
13	chr19:36040674..36043456-chr19:36205595..36207863,3	MCF-7	breast:
14	chr19:36193434..36194967-chr19:36206737..36208478,2	K562	blood:
15	chr19:36047138..36050303-chr19:36204932..36209680,5	K562	blood:
16	chr19:36206622..36208995-chr6:27860723..27862683,2	K562	blood:
17	chr19:36184326..36185624-chr19:36206337..36208829,45	MCF-7	breast:
18	chr19:36206099..36210841-chr19:36246614..36251827,8	MCF-7	breast:
19	chr19:36035457..36038261-chr19:36205897..36210098,5	MCF-7	breast:
20	chr19:36119042..36121098-chr19:36206964..36208639,2	K562	blood:
21	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:

Variant related genes	Relation type
KMT2B	TF binding region
ENSG00000272333	TF binding region
ENSG00000268947	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000196331	Chromatin interaction
ENSG00000236144	Chromatin interaction
ENSG00000105677	Chromatin interaction
ENSG00000105663	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000105672	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000126246	Chromatin interaction
ENSG00000272333	Chromatin interaction
ENSG00000105699	Chromatin interaction
ENSG00000126254	Chromatin interaction
ENSG00000105675	Chromatin interaction
ENSG00000167595	Chromatin interaction
ENSG00000167604	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10402837	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10413852	0.91[EUR][1000 genomes]
rs12104249	0.89[EUR][1000 genomes]
rs12459073	0.81[EUR][1000 genomes]
rs12461285	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12461333	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12463059	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28633929	0.82[EUR][1000 genomes]
rs2871921	0.93[ASN][1000 genomes]
rs34031911	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35209304	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35729071	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3848662	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3848665	0.93[ASN][1000 genomes]
rs56189160	0.86[EUR][1000 genomes]
rs62109452	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62109998	0.92[EUR][1000 genomes]
rs7249885	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7260184	0.82[AFR][1000 genomes]
rs73048504	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8106959	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304874	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2234371	U2AF1L4	Cis_1M	lymphoblastoid	RTeQTL
rs2234371	TMEM149	Cis_1M	lymphoblastoid	RTeQTL
rs2234371	U2AF1L4	cis	Muscle Skeletal	GTEx
rs2234371	TMEM149	cis	multi-tissue	Pritchard
rs2234371	RN7SL765P	cis	Muscle Skeletal	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36201200-36207000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr19:36201600-36207000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr19:36201600-36207200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr19:36202200-36207000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr19:36203200-36207400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr19:36203600-36207600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr19:36204600-36208400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:36205000-36207000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:36205200-36207000	Enhancers	Primary T cells from cord blood	blood
10	chr19:36205200-36208200	Flanking Active TSS	GM12878-XiMat	blood
11	chr19:36205600-36207400	Enhancers	Stomach Mucosa	stomach
12	chr19:36206200-36207000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:36206200-36207000	Enhancers	Esophagus	oesophagus
14	chr19:36206200-36207200	Flanking Active TSS	HepG2	liver
15	chr19:36206200-36207600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr19:36206200-36207800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:36206200-36207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr19:36206200-36207800	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr19:36206400-36207000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:36206400-36207000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
21	chr19:36206400-36207000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:36206400-36207000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:36206400-36207000	Enhancers	Placenta	Placenta
24	chr19:36206400-36207200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:36206400-36207200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:36206400-36207200	Enhancers	Fetal Heart	heart
27	chr19:36206400-36207200	Enhancers	Ovary	ovary
28	chr19:36206400-36207200	Enhancers	Spleen	Spleen
29	chr19:36206400-36207400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr19:36206400-36207600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:36206400-36207600	Enhancers	Fetal Brain Male	brain
32	chr19:36206400-36207800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:36206400-36207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:36206400-36207800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:36206400-36207800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr19:36206400-36208200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr19:36206600-36207000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:36206600-36207000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:36206600-36207000	Enhancers	Primary B cells from cord blood	blood
40	chr19:36206600-36207000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr19:36206600-36207000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr19:36206600-36207000	Enhancers	Fetal Lung	lung
43	chr19:36206600-36207000	Enhancers	Gastric	stomach
44	chr19:36206600-36207000	Enhancers	Left Ventricle	heart
45	chr19:36206600-36207000	Enhancers	Dnd41	blood
46	chr19:36206600-36207000	Enhancers	HUVEC	blood vessel
47	chr19:36206600-36207000	Enhancers	NHEK	skin
48	chr19:36206600-36207200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:36206600-36207200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:36206600-36207200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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