Variant report

Variant	rs7257611
Chromosome Location	chr19:56152029-56152030
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	chr19:56151392-56153019	A549	lung:	n/a	n/a
2	MAX	chr19:56151221-56155795	A549	lung:	n/a	chr19:56155426-56155435 chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56155425-56155436 chr19:56151538-56151549
3	POLR2A	chr19:56151273-56155759	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr19:56150319-56156666	Hela-S3	cervix:	n/a	n/a
5	PML	chr19:56151953-56153055	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:56150228-56156269	GM12891	blood:	n/a	n/a
7	MAX	chr19:56151390-56152158	H1-hESC	embryonic stem cell:	n/a	chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56151538-56151549
8	BACH1	chr19:56151784-56152439	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr19:56150192-56156534	GM12878	blood:	n/a	n/a
10	TCF7L2	chr19:56152000-56152895	HCT-116	colon:	n/a	n/a
11	POLR2A	chr19:56151958-56152990	HepG2	liver:	n/a	n/a
12	CTCF	chr19:56151980-56152130	HUVEC	blood vessel:	n/a	n/a
13	HDAC2	chr19:56152002-56152388	H1-hESC	embryonic stem cell:	n/a	n/a
14	PAX5	chr19:56151876-56152539	GM12891	blood:	n/a	n/a
15	POLR2A	chr19:56151425-56153170	MCF-7	breast:	n/a	n/a
16	E2F6	chr19:56151236-56152544	H1-hESC	embryonic stem cell:	n/a	chr19:56152366-56152373 chr19:56152049-56152061
17	ELF1	chr19:56151971-56153073	GM12878	blood:	n/a	chr19:56152467-56152476 chr19:56152448-56152459 chr19:56152354-56152363 chr19:56152449-56152458
18	NRF1	chr19:56151325-56152381	SK-N-SH	brain:	n/a	chr19:56151647-56151656 chr19:56151645-56151659 chr19:56151645-56151656
19	POLR2A	chr19:56151559-56152845	GM10847	blood:	n/a	n/a
20	ELF1	chr19:56151939-56152570	A549	lung:	n/a	chr19:56152467-56152476 chr19:56152448-56152459 chr19:56152354-56152363 chr19:56152449-56152458
21	HMGN3	chr19:56151360-56152899	K562	blood:	n/a	n/a
22	POLR2A	chr19:56151627-56153074	HepG2	liver:	n/a	n/a
23	CHD2	chr19:56151532-56155316	Hela-S3	cervix:	n/a	chr19:56154963-56154973 chr19:56152366-56152373
24	POLR2A	chr19:56151939-56152829	K562	blood:	n/a	n/a
25	CTCF	chr19:56151960-56152190	SAEC	small airway:	n/a	n/a
26	EGR1	chr19:56152020-56152596	K562	blood:	n/a	n/a
27	POLR2A	chr19:56151715-56153148	H1-hESC	embryonic stem cell:	n/a	n/a
28	MXI1	chr19:56151951-56152951	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:56149778-56157300	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr19:56151443-56152984	HepG2	liver:	n/a	n/a
31	NFYB	chr19:56151800-56152197	K562	blood:	n/a	n/a
32	CHD2	chr19:56151397-56152507	K562	blood:	n/a	chr19:56152366-56152373
33	MAZ	chr19:56151386-56153256	K562	blood:	n/a	chr19:56151539-56151548 chr19:56151539-56151549 chr19:56151539-56151549 chr19:56151538-56151549
34	CHD1	chr19:56151846-56152557	GM12878	blood:	n/a	chr19:56152366-56152373
35	BCL3	chr19:56151732-56155150	A549	lung:	n/a	chr19:56153847-56153856 chr19:56152354-56152363 chr19:56152485-56152494
36	HEY1	chr19:56151797-56153000	HepG2	liver:	n/a	n/a
37	CTCF	chr19:56151900-56152050	AG04449	skin:	n/a	n/a
38	POLR2A	chr19:56151923-56152644	K562	blood:	n/a	n/a
39	POLR2A	chr19:56150010-56156634	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr19:56151299-56155891	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:56151990-56153336	A549	lung:	n/a	n/a
42	E2F6	chr19:56151278-56152605	K562	blood:	n/a	chr19:56152366-56152373 chr19:56152049-56152061
43	GABPA	chr19:56151357-56152945	K562	blood:	n/a	chr19:56151647-56151656 chr19:56151645-56151659 chr19:56151645-56151656
44	CEBPD	chr19:56151878-56153113	HepG2	liver:	n/a	n/a
45	STAT5A	chr19:56151685-56152634	GM12878	blood:	n/a	chr19:56151811-56151818 chr19:56151740-56151752
46	REST	chr19:56151929-56153150	H1-neurons	neurons:	n/a	chr19:56152785-56152795 chr19:56152735-56152748
47	POLR2A	chr19:56151171-56152126	GM12892	blood:	n/a	n/a
48	POLR2A	chr19:56151264-56153383	K562	blood:	n/a	n/a
49	POLR2A	chr19:56151325-56156943	GM19099	blood:	n/a	n/a
50	MAX	chr19:56151727-56153082	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:55994990..55999125-chr19:56150596..56153745,4	K562	blood:
2	chr19:55813454..55816310-chr19:56151502..56153482,2	MCF-7	breast:
3	chr19:56113112..56115949-chr19:56151962..56154337,3	K562	blood:
4	chr19:56107792..56111497-chr19:56151607..56154571,3	MCF-7	breast:
5	chr19:56132811..56137423-chr19:56151241..56156557,5	MCF-7	breast:
6	chr19:56111889..56113389-chr19:56150627..56153013,2	K562	blood:
7	chr19:56109576..56111086-chr19:56151064..56152602,2	K562	blood:
8	chr19:56134500..56138557-chr19:56151822..56155582,4	K562	blood:
9	chr19:55626366..55629144-chr19:56151698..56154505,2	MCF-7	breast:
10	chr19:56133203..56138391-chr19:56150309..56156340,8	K562	blood:
11	chr19:56143043..56143692-chr19:56151602..56152128,2	K562	blood:
12	chr19:56109287..56112853-chr19:56149861..56154883,7	MCF-7	breast:
13	chr19:56086664..56089219-chr19:56150784..56152646,2	MCF-7	breast:
14	chr19:55627842..55630893-chr19:56150877..56153462,3	MCF-7	breast:
15	chr19:54973325..54975898-chr19:56151644..56153909,2	MCF-7	breast:
16	chr19:56115086..56118069-chr19:56150430..56156112,7	MCF-7	breast:
17	chr19:55917594..55920802-chr19:56150613..56153734,3	K562	blood:
18	chr19:56114376..56117189-chr19:56151962..56154337,3	K562	blood:

Variant related genes	Relation type
CCDC106	TF binding region
ZNF581	TF binding region
ZNF580	TF binding region
ENSG00000179922	Chromatin interaction
ENSG00000267730	Chromatin interaction
ENSG00000261221	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000125503	Chromatin interaction
ENSG00000160469	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000182909	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2459748	0.83[EUR][1000 genomes]
rs553947	0.87[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	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv828643	chr19:56059280-56154823	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
6	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
8	nsv912503	chr19:56149077-56162776	Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
9	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56150400-56152200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr19:56150400-56152400	Enhancers	Spleen	Spleen
3	chr19:56150800-56152200	Flanking Active TSS	GM12878-XiMat	blood
4	chr19:56151200-56152200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:56151200-56152200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:56151200-56152200	Flanking Active TSS	Fetal Muscle Trunk	muscle
7	chr19:56151200-56152200	Enhancers	Small Intestine	intestine
8	chr19:56151400-56152200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:56151400-56152200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr19:56151400-56152200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr19:56151400-56152200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:56151400-56152200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr19:56151400-56152200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:56151400-56152200	Flanking Active TSS	Liver	Liver
15	chr19:56151400-56152200	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr19:56151400-56152200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:56151400-56152200	Flanking Active TSS	Colonic Mucosa	Colon
18	chr19:56151400-56152200	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr19:56151400-56152200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr19:56151400-56152200	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr19:56151400-56152200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:56151400-56152200	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr19:56151400-56152200	Flanking Active TSS	Dnd41	blood
24	chr19:56151400-56152200	Flanking Active TSS	HMEC	breast
25	chr19:56151400-56152200	Flanking Active TSS	HSMM	muscle
26	chr19:56151400-56152200	Flanking Active TSS	NHEK	skin
27	chr19:56151400-56152200	Flanking Active TSS	NHLF	lung
28	chr19:56151400-56152400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:56151400-56152600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr19:56151400-56153800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:56151400-56154000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:56151400-56154400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr19:56151600-56152200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:56151600-56152200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr19:56151600-56152200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr19:56151600-56152200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:56151600-56152200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:56151600-56152200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr19:56151600-56152200	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr19:56151600-56152200	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr19:56151600-56152200	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr19:56151600-56152200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr19:56151600-56152200	Flanking Active TSS	HUVEC	blood vessel
44	chr19:56151600-56152200	Flanking Active TSS	K562	blood
45	chr19:56151600-56152200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr19:56151600-56152200	Flanking Active TSS	NHDF-Ad	bronchial
47	chr19:56151600-56152800	Transcr. at gene 5' and 3'	Right Atrium	heart
48	chr19:56151600-56154200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr19:56151600-56154400	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr19:56151600-56154800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood

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