Variant report

Variant	rs57191897
Chromosome Location	chr11:71935440-71935441
allele	A/C
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	chr11:71933601-71936308	K562	blood:	n/a	n/a
2	POLR2A	chr11:71934156-71936944	MCF-7	breast:	n/a	n/a
3	MAX	chr11:71933875-71936049	A549	lung:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
4	POLR2A	chr11:71934090-71936219	ProgFib	skin:	n/a	n/a
5	ZKSCAN1	chr11:71935263-71935561	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:71934644-71935521	A549	lung:	n/a	n/a
7	ZBTB7A	chr11:71934164-71936589	ECC-1	luminal epithelium:	n/a	chr11:71935345-71935353 chr11:71934980-71934989
8	POLR2A	chr11:71935204-71935505	GM12892	blood:	n/a	n/a
9	CHD2	chr11:71933847-71936905	Hela-S3	cervix:	n/a	chr11:71934835-71934845 chr11:71934840-71934850 chr11:71934293-71934300
10	SIN3AK20	chr11:71933993-71935656	PANC-1	pancreas:	n/a	n/a
11	EBF1	chr11:71935416-71935554	GM12878	blood:	n/a	chr11:71935527-71935538
12	MAZ	chr11:71934099-71936967	Hela-S3	cervix:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
13	TEAD4	chr11:71934929-71935504	K562	blood:	n/a	n/a
14	CHD1	chr11:71933897-71935936	GM12878	blood:	n/a	chr11:71934835-71934845 chr11:71934840-71934850 chr11:71934293-71934300
15	POLR2A	chr11:71935152-71935457	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr11:71933746-71937002	GM18526	blood:	n/a	n/a
17	MAZ	chr11:71933467-71937004	K562	blood:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
18	TCF7L2	chr11:71934111-71935512	HCT-116	colon:	n/a	n/a
19	POLR2A	chr11:71933942-71935468	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:71935103-71935691	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:71933986-71935664	Hela-S3	cervix:	n/a	n/a
22	HEY1	chr11:71934913-71935972	K562	blood:	n/a	chr11:71935748-71935763 chr11:71935868-71935883 chr11:71935768-71935783
23	WRNIP1	chr11:71935405-71935605	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:71934015-71936417	HUVEC	blood vessel:	n/a	n/a
25	MXI1	chr11:71933925-71935443	GM12878	blood:	n/a	n/a
26	PBX3	chr11:71935078-71935963	A549	lung:	n/a	n/a
27	TCF12	chr11:71934906-71936070	A549	lung:	n/a	n/a
28	ZBTB7A	chr11:71934151-71936344	K562	blood:	n/a	chr11:71935345-71935353 chr11:71934980-71934989
29	POLR2A	chr11:71934905-71935511	SK-N-SH	brain:	n/a	n/a
30	SIN3A	chr11:71934079-71936998	H1-hESC	embryonic stem cell:	n/a	chr11:71935848-71935859 chr11:71934862-71934875 chr11:71934965-71934978 chr11:71934675-71934686
31	ZBTB7A	chr11:71934069-71936527	ECC-1	luminal epithelium:	n/a	chr11:71935345-71935353 chr11:71934980-71934989
32	NRF1	chr11:71935398-71935942	GM12878	blood:	n/a	n/a
33	TBP	chr11:71933997-71935520	K562	blood:	n/a	n/a
34	POLR2A	chr11:71934889-71935485	SK-N-MC	brain:	n/a	n/a
35	PML	chr11:71933836-71936092	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:71934105-71935942	K562	blood:	n/a	n/a
37	POLR2A	chr11:71934906-71935972	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr11:71935281-71935519	H1-hESC	embryonic stem cell:	n/a	n/a
39	MAZ	chr11:71933785-71936902	IMR90	lung:	n/a	chr11:71934265-71934275 chr11:71934378-71934388 chr11:71935217-71935227 chr11:71935787-71935797
40	POLR2A	chr11:71935203-71935711	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:71933964-71936017	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr11:71933806-71937078	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:71933928-71936650	GM18951	blood:	n/a	n/a
44	TCF12	chr11:71933942-71935502	ECC-1	luminal epithelium:	n/a	n/a
45	POLR2A	chr11:71933496-71937164	GM12878	blood:	n/a	n/a
46	ZBTB7A	chr11:71934084-71935637	K562	blood:	n/a	chr11:71935345-71935353 chr11:71934980-71934989
47	POLR2A	chr11:71933582-71937060	GM12891	blood:	n/a	n/a
48	POLR2A	chr11:71933939-71936656	GM15510	blood:	n/a	n/a
49	SP1	chr11:71933923-71935609	A549	lung:	n/a	chr11:71934404-71934416 chr11:71934310-71934319 chr11:71934319-71934328 chr11:71934840-71934849 chr11:71934838-71934850 chr11:71934381-71934390 chr11:71934314-71934328 chr11:71934379-71934390 chr11:71934306-71934320 chr11:71934309-71934321 chr11:71935348-71935360 chr11:71935145-71935159 chr11:71934840-71934849 chr11:71934319-71934328 chr11:71934318-71934328 chr11:71934556-71934565 chr11:71934318-71934328 chr11:71935348-71935360 chr11:71934839-71934849 chr11:71934309-71934321 chr11:71934405-71934414 chr11:71935349-71935358 chr11:71934380-71934389 chr11:71934839-71934848 chr11:71934838-71934850 chr11:71934317-71934329 chr11:71934317-71934329 chr11:71934404-71934415 chr11:71934406-71934415 chr11:71934557-71934566 chr11:71934404-71934416 chr11:71934379-71934391 chr11:71934318-71934327 chr11:71934555-71934567
50	POLR2A	chr11:71933793-71935506	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71748920..71751712-chr11:71934433..71936381,2	K562	blood:
2	chr11:71794597..71796676-chr11:71933862..71937757,3	K562	blood:
3	chr11:71901671..71903414-chr11:71935255..71937663,2	K562	blood:
4	chr11:71901535..71906562-chr11:71933469..71937383,8	MCF-7	breast:
5	chr11:71928745..71931355-chr11:71933643..71936077,2	MCF-7	breast:
6	chr11:71823487..71825907-chr11:71932451..71935590,3	K562	blood:
7	chr11:71935149..71936719-chr11:72144197..72145744,2	K562	blood:
8	chr11:71820588..71822402-chr11:71934430..71936040,2	K562	blood:
9	chr11:71933506..71936425-chr8:101962971..101964656,2	MCF-7	breast:
10	chr11:71935409..71935957-chr11:72144881..72145767,2	MCF-7	breast:
11	chr11:71902919..71905831-chr11:71935320..71937132,2	MCF-7	breast:
12	chr11:71935078..71937662-chr11:71961584..71963637,2	MCF-7	breast:
13	chr11:71790877..71793243-chr11:71934127..71937254,3	K562	blood:
14	chr11:71933813..71936010-chr11:72394188..72397078,2	MCF-7	breast:
15	chr11:71734724..71737619-chr11:71934939..71936763,2	MCF-7	breast:
16	chr11:71933747..71936558-chr11:71962323..71967146,4	K562	blood:
17	chr11:71822132..71825937-chr11:71933388..71938158,5	MCF-7	breast:
18	chr11:71812032..71815862-chr11:71933743..71937376,6	MCF-7	breast:
19	chr11:71749038..71754852-chr11:71933473..71937860,9	MCF-7	breast:
20	chr11:71933144..71936187-chr11:72142812..72145474,4	MCF-7	breast:
21	chr11:71821560..71824482-chr11:71933153..71936536,4	MCF-7	breast:
22	chr11:71933976..71935544-chr6:30710899..30712644,2	MCF-7	breast:
23	chr11:71750373..71752525-chr11:71933775..71937280,4	MCF-7	breast:
24	chr11:71812576..71816251-chr11:71934138..71937267,4	MCF-7	breast:
25	chr11:71705470..71708103-chr11:71933163..71935736,2	K562	blood:

Variant related genes	Relation type
INPPL1	TF binding region
ENSG00000228286	Chromatin interaction
ENSG00000238768	Chromatin interaction
ENSG00000110195	Chromatin interaction
ENSG00000110203	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000256007	Chromatin interaction
ENSG00000149357	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000165457	Chromatin interaction
ENSG00000137522	Chromatin interaction
ENSG00000110200	Chromatin interaction
ENSG00000162129	Chromatin interaction
ENSG00000137497	Chromatin interaction
ENSG00000184154	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17162091	0.88[ASN][1000 genomes]
rs17847219	0.88[ASN][1000 genomes]
rs2365379	0.96[ASN][1000 genomes]
rs55888146	0.96[ASN][1000 genomes]
rs55907154	0.86[ASN][1000 genomes]
rs55970551	0.81[ASN][1000 genomes]
rs55989089	0.96[ASN][1000 genomes]
rs59755180	0.96[ASN][1000 genomes]
rs60549044	0.96[ASN][1000 genomes]
rs7122350	0.81[ASN][1000 genomes]
rs714548	0.88[ASN][1000 genomes]
rs72477721	0.80[EUR][1000 genomes]
rs73532651	0.81[ASN][1000 genomes]
rs7941873	0.86[ASN][1000 genomes]

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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv897908	chr11:71927468-71956890	ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv897909	chr11:71927468-71960554	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3356829	chr11:71933329-71936177	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
5	esv3333139	chr11:71933354-71937252	Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 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	chr11:71933600-71936800	Active TSS	Aorta	Aorta
2	chr11:71933800-71936400	Active TSS	Esophagus	oesophagus
3	chr11:71933800-71936400	Active TSS	Gastric	stomach
4	chr11:71933800-71936400	Active TSS	Ovary	ovary
5	chr11:71933800-71936400	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr11:71933800-71936400	Active TSS	Small Intestine	intestine
7	chr11:71933800-71936400	Active TSS	A549	lung
8	chr11:71933800-71936800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:71933800-71937000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:71933800-71937200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:71933800-71937200	Active TSS	Fetal Kidney	kidney
12	chr11:71934000-71936200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:71934000-71936200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:71934000-71936200	Active TSS	Brain Cingulate Gyrus	brain
15	chr11:71934000-71936200	Active TSS	Colonic Mucosa	Colon
16	chr11:71934000-71936200	Active TSS	Duodenum Mucosa	Duodenum
17	chr11:71934000-71936200	Active TSS	Pancreas	Pancrea
18	chr11:71934000-71936200	Active TSS	Placenta Amnion	Placenta Amnion
19	chr11:71934000-71936200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr11:71934000-71936200	Active TSS	Right Ventricle	heart
21	chr11:71934000-71936400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:71934000-71936400	Active TSS	Primary T cells from cord blood	blood
23	chr11:71934000-71936400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:71934000-71936400	Active TSS	Brain Angular Gyrus	brain
25	chr11:71934000-71936400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:71934000-71936400	Active TSS	Colon Smooth Muscle	Colon
27	chr11:71934000-71936400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:71934000-71936400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr11:71934000-71936400	Active TSS	Fetal Intestine Large	intestine
30	chr11:71934000-71936400	Active TSS	Fetal Intestine Small	intestine
31	chr11:71934000-71936400	Active TSS	Fetal Stomach	stomach
32	chr11:71934000-71936400	Active TSS	Left Ventricle	heart
33	chr11:71934000-71936400	Active TSS	Psoas Muscle	Psoas
34	chr11:71934000-71936400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:71934000-71936400	Active TSS	Right Atrium	heart
36	chr11:71934000-71936400	Active TSS	Spleen	Spleen
37	chr11:71934000-71936400	Active TSS	Dnd41	blood
38	chr11:71934000-71936400	Active TSS	K562	blood
39	chr11:71934000-71936400	Active TSS	Osteobl	bone
40	chr11:71934000-71936600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:71934000-71936600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:71934000-71936600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:71934000-71936600	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr11:71934000-71936600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:71934000-71936600	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:71934000-71936600	Active TSS	Lung	lung
47	chr11:71934000-71936600	Active TSS	GM12878-XiMat	blood
48	chr11:71934000-71936600	Active TSS	HepG2	liver
49	chr11:71934000-71936800	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr11:71934000-71936800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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