Variant report

Variant	rs2307187
Chromosome Location	chr19:44079611-44079612
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	chr19:44079484-44079916	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr19:44079438-44079936	GM18951	blood:	n/a	n/a
3	MAX	chr19:44079559-44079985	NB4	blood:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
4	STAT5A	chr19:44079258-44079762	GM12878	blood:	n/a	chr19:44079666-44079678
5	BHLHE40	chr19:44079517-44080045	GM12878	blood:	n/a	n/a
6	PAX5	chr19:44079503-44080001	GM12878	blood:	n/a	n/a
7	JUND	chr19:44079273-44080017	H1-hESC	embryonic stem cell:	n/a	chr19:44079849-44079858
8	MAX	chr19:44079365-44080044	ECC-1	luminal epithelium:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
9	YY1	chr19:44079399-44080026	GM12892	blood:	n/a	chr19:44079582-44079594 chr19:44079684-44079693
10	HA-E2F1	chr19:44078872-44080741	MCF-7	breast:	n/a	chr19:44080527-44080534 chr19:44080527-44080534 chr19:44079684-44079693 chr19:44080527-44080534 chr19:44079716-44079725 chr19:44079848-44079857 chr19:44079800-44079811
11	ZKSCAN1	chr19:44079396-44079931	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr19:44078619-44080254	IMR90	lung:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
13	POLR2A	chr19:44079250-44079996	HUVEC	blood vessel:	n/a	n/a
14	CEBPB	chr19:44079598-44079923	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:44079434-44079893	GM15510	blood:	n/a	n/a
16	ELF1	chr19:44079608-44080015	HepG2	liver:	n/a	n/a
17	MAX	chr19:44079421-44079990	GM12878	blood:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
18	RFX5	chr19:44079064-44081406	SK-N-SH	brain:	n/a	chr19:44079923-44079932 chr19:44079821-44079835 chr19:44079921-44079935 chr19:44079823-44079832 chr19:44079920-44079935 chr19:44079819-44079833 chr19:44079919-44079933 chr19:44079918-44079934
19	MAX	chr19:44079345-44080088	A549	lung:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
20	CUX1	chr19:44079350-44079725	K562	blood:	n/a	n/a
21	TAF1	chr19:44079519-44079820	Hela-S3	cervix:	n/a	n/a
22	ATF3	chr19:44079488-44079843	H1-hESC	embryonic stem cell:	n/a	chr19:44079684-44079693
23	EGR1	chr19:44079493-44080097	K562	blood:	n/a	chr19:44079996-44080006 chr19:44079678-44079693 chr19:44079679-44079692 chr19:44079681-44079691 chr19:44079679-44079692 chr19:44079716-44079725 chr19:44079847-44079857 chr19:44079995-44080002
24	POLR2A	chr19:44079418-44079884	K562	blood:	n/a	n/a
25	ATF3	chr19:44079490-44079908	K562	blood:	n/a	chr19:44079885-44079905 chr19:44079684-44079693
26	TBP	chr19:44079450-44080060	K562	blood:	n/a	n/a
27	POLR2A	chr19:44079485-44079800	SK-N-MC	brain:	n/a	n/a
28	PML	chr19:44079403-44079866	K562	blood:	n/a	n/a
29	EP300	chr19:44079036-44080900	SK-N-SH	brain:	n/a	chr19:44079378-44079385 chr19:44080824-44080837
30	MAZ	chr19:44079365-44080024	HepG2	liver:	n/a	chr19:44079678-44079688 chr19:44079682-44079692
31	POLR2A	chr19:44079463-44079908	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:44079354-44080198	H1-neurons	neurons:	n/a	n/a
33	YY1	chr19:44079309-44080043	HepG2	liver:	n/a	chr19:44079582-44079594 chr19:44079684-44079693
34	POLR2A	chr19:44079438-44079708	SK-N-SH	brain:	n/a	n/a
35	JUND	chr19:44079397-44080046	A549	lung:	n/a	chr19:44079849-44079858
36	RFX5	chr19:44079476-44080137	K562	blood:	n/a	chr19:44079923-44079932 chr19:44079821-44079835 chr19:44079921-44079935 chr19:44079823-44079832 chr19:44079920-44079935 chr19:44079819-44079833 chr19:44079919-44079933 chr19:44079918-44079934
37	HEY1	chr19:44079439-44079746	HepG2	liver:	n/a	n/a
38	ATF1	chr19:44079587-44080026	K562	blood:	n/a	n/a
39	YY1	chr19:44079428-44079769	K562	blood:	n/a	chr19:44079582-44079594 chr19:44079684-44079693
40	NFYA	chr19:44079506-44080070	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr19:44079250-44080056	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:44079406-44079814	HepG2	liver:	n/a	n/a
43	ZBTB7A	chr19:44079582-44079847	HepG2	liver:	n/a	n/a
44	YY1	chr19:44079364-44079785	SK-N-SH_RA	brain:	n/a	chr19:44079582-44079594 chr19:44079684-44079693
45	MAFK	chr19:44079491-44079899	Hela-S3	cervix:	n/a	n/a
46	TBP	chr19:44079434-44079979	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:44079410-44080021	GM12891	blood:	n/a	n/a
48	ZMIZ1	chr19:44079423-44079816	K562	blood:	n/a	n/a
49	ATF3	chr19:44079497-44080010	A549	lung:	n/a	chr19:44079885-44079905 chr19:44079684-44079693
50	RFX5	chr19:44079029-44081054	IMR90	lung:	n/a	chr19:44079923-44079932 chr19:44079821-44079835 chr19:44079921-44079935 chr19:44079823-44079832 chr19:44079920-44079935 chr19:44079819-44079833 chr19:44079919-44079933 chr19:44079918-44079934

No.	Distal block	Cell Line	Cell type
1	chr19:44078455..44080853-chr19:44098810..44102178,4	MCF-7	breast:
2	chr19:44036185..44038265-chr19:44078295..44081409,3	K562	blood:
3	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
4	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
5	chr19:44078643..44081382-chr19:44098876..44100782,4	K562	blood:
6	chr19:44078955..44081902-chr19:44082644..44085623,4	MCF-7	breast:
7	chr19:44078138..44080459-chr19:44123311..44124978,2	MCF-7	breast:
8	chr19:44079594..44081331-chr19:44123672..44125242,2	MCF-7	breast:
9	chr19:44077687..44082496-chr19:44098234..44103069,7	MCF-7	breast:
10	chr19:44077515..44081647-chr19:44122454..44125105,4	K562	blood:
11	chr19:43991164..43993354-chr19:44079151..44081521,2	K562	blood:
12	chr19:44035923..44038107-chr19:44078243..44080720,2	MCF-7	breast:
13	chr19:44078733..44081444-chr19:44094635..44097229,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-L34079.1-3	chr19:44079551-44079770	ENSG00000269583.1

Variant related genes	Relation type
PINLYP	TF binding region
ENSG00000176531	Chromatin interaction
ENSG00000268361	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000176472	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2682588	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2854497	1.00[CHB][hapmap]
rs2854510	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs3213251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213289	1.00[ASN][1000 genomes]
rs3213293	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213321	1.00[CHB][hapmap]
rs3213322	1.00[CHB][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs346049	1.00[CHB][hapmap]
rs73556510	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73556512	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73556542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8104645	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532820	chr19:43807486-44080610	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv1056785	chr19:44010370-44081601	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr19:44078600-44080200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr19:44078600-44080200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr19:44078600-44080200	Active TSS	A549	lung
4	chr19:44078600-44080200	Active TSS	GM12878-XiMat	blood
5	chr19:44078600-44080400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:44078600-44080600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:44078600-44080600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr19:44078800-44080200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:44079000-44079800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:44079000-44079800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:44079000-44079800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr19:44079000-44079800	Active TSS	Small Intestine	intestine
13	chr19:44079000-44080200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:44079000-44080200	Active TSS	Right Atrium	heart
15	chr19:44079000-44080200	Active TSS	K562	blood
16	chr19:44079000-44080400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:44079000-44080400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr19:44079000-44080400	Active TSS	HSMM	muscle
19	chr19:44079000-44080400	Active TSS	NHLF	lung
20	chr19:44079000-44080600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr19:44079000-44080600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:44079200-44079800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:44079200-44079800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:44079200-44079800	Active TSS	Aorta	Aorta
25	chr19:44079200-44079800	Active TSS	Gastric	stomach
26	chr19:44079200-44080000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr19:44079200-44080000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:44079200-44080000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr19:44079200-44080000	Active TSS	Fetal Intestine Small	intestine
30	chr19:44079200-44080000	Active TSS	Fetal Muscle Trunk	muscle
31	chr19:44079200-44080000	Active TSS	Fetal Stomach	stomach
32	chr19:44079200-44080000	Active TSS	Spleen	Spleen
33	chr19:44079200-44080200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr19:44079200-44080200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:44079200-44080200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:44079200-44080200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:44079200-44080200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:44079200-44080200	Active TSS	Muscle Satellite Cultured Cells	--
39	chr19:44079200-44080200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:44079200-44080200	Active TSS	Brain Angular Gyrus	brain
41	chr19:44079200-44080200	Active TSS	Brain Anterior Caudate	brain
42	chr19:44079200-44080200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:44079200-44080200	Active TSS	Esophagus	oesophagus
44	chr19:44079200-44080200	Active TSS	Fetal Brain Male	brain
45	chr19:44079200-44080200	Active TSS	Fetal Brain Female	brain
46	chr19:44079200-44080200	Active TSS	Fetal Intestine Large	intestine
47	chr19:44079200-44080200	Active TSS	Fetal Lung	lung
48	chr19:44079200-44080200	Active TSS	Lung	lung
49	chr19:44079200-44080200	Active TSS	Ovary	ovary
50	chr19:44079200-44080200	Active TSS	Pancreas	Pancrea

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