Variant report

Variant	rs2289193
Chromosome Location	chr2:11919498-11919499
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	MXI1	chr2:11919314-11919652	H1-hESC	embryonic stem cell:	n/a	chr2:11919447-11919456
2	ZMIZ1	chr2:11919296-11919568	K562	blood:	n/a	n/a
3	CTCF	chr2:11919230-11919786	IMR90	lung:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
4	CTCF	chr2:11919316-11919658	T-47D	breast:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
5	MAX	chr2:11919262-11919684	K562	blood:	n/a	chr2:11919447-11919457
6	MAX	chr2:11919134-11919706	K562	blood:	n/a	chr2:11919447-11919457
7	CTCF	chr2:11919420-11919570	NHEK	skin:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
8	CTCF	chr2:11919340-11919610	AG04450	lung:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
9	ATF3	chr2:11919354-11919597	K562	blood:	n/a	n/a
10	CTCF	chr2:11919261-11919755	HepG2	liver:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
11	USF1	chr2:11919255-11919679	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr2:11919341-11919723	T-47D	breast:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
13	E2F6	chr2:11919185-11919705	H1-hESC	embryonic stem cell:	n/a	n/a
14	MAX	chr2:11919262-11919681	Hela-S3	cervix:	n/a	chr2:11919447-11919457
15	CTCF	chr2:11919365-11919630	HUVEC	blood vessel:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
16	CTCF	chr2:11919315-11919646	ECC-1	luminal epithelium:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
17	MYC	chr2:11919353-11919586	MCF-7	breast:	n/a	chr2:11919447-11919457
18	RAD21	chr2:11919052-11919812	MCF-7	breast:	n/a	chr2:11919482-11919496 chr2:11919481-11919494 chr2:11919480-11919492 chr2:11919478-11919497 chr2:11919482-11919492
19	CTCF	chr2:11919207-11919688	K562	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
20	RFX5	chr2:11919310-11919659	Hela-S3	cervix:	n/a	n/a
21	YY1	chr2:11919310-11919548	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr2:11919460-11919610	NHDF-neo	bronchial:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496
23	CTCF	chr2:11919420-11919570	GM12870	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
24	SIN3AK20	chr2:11919303-11919633	K562	blood:	n/a	n/a
25	CTCF	chr2:11919380-11919530	HFF-Myc	foreskin:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
26	MAX	chr2:11919164-11919743	MCF-7	breast:	n/a	chr2:11919447-11919457
27	MAX	chr2:11919254-11919658	H1-hESC	embryonic stem cell:	n/a	chr2:11919447-11919457
28	SIN3A	chr2:11919268-11919680	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:11919232-11919717	GM12878	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
30	CTCF	chr2:11919420-11919570	AG04449	skin:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
31	SP1	chr2:11919289-11919578	GM12878	blood:	n/a	chr2:11919479-11919488 chr2:11919480-11919493
32	TEAD4	chr2:11919316-11919562	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr2:11919400-11919550	HL-60	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
34	CTCF	chr2:11919255-11919699	H1-hESC	embryonic stem cell:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
35	MAX	chr2:11919118-11919794	HepG2	liver:	n/a	chr2:11919447-11919457
36	NFIC	chr2:11919306-11919638	HepG2	liver:	n/a	n/a
37	MBD4	chr2:11919215-11919714	HepG2	liver:	n/a	n/a
38	RAD21	chr2:11919033-11919833	HCT-116	colon:	n/a	chr2:11919482-11919496 chr2:11919481-11919494 chr2:11919480-11919492 chr2:11919478-11919497 chr2:11919482-11919492
39	RAD21	chr2:11919242-11919782	IMR90	lung:	n/a	chr2:11919482-11919496 chr2:11919481-11919494 chr2:11919480-11919492 chr2:11919478-11919497 chr2:11919482-11919492
40	CTCF	chr2:11919383-11919606	GM20000	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
41	CTCF	chr2:11919440-11919590	GM12875	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496
42	CTCF	chr2:11919480-11919630	HRPEpiC	eye:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495
43	CTCF	chr2:11919400-11919550	HepG2	liver:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
44	CTCF	chr2:11919380-11919530	HMF	breast:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
45	CTCF	chr2:11919350-11919648	Kidney_OC	kidney:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
46	CTCF	chr2:11919400-11919550	GM12867	blood:	n/a	chr2:11919481-11919497 chr2:11919486-11919495 chr2:11919483-11919493 chr2:11919480-11919498 chr2:11919482-11919495 chr2:11919475-11919496 chr2:11919420-11919433 chr2:11919422-11919432
47	POLR2A	chr2:11919429-11919571	K562	blood:	n/a	n/a
48	E2F6	chr2:11919299-11919592	K562	blood:	n/a	n/a
49	ETS1	chr2:11919297-11919568	K562	blood:	n/a	n/a
50	MYC	chr2:11919249-11919640	H1-hESC	embryonic stem cell:	n/a	chr2:11919447-11919457

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11919475-11919525	GM12878	blood:	n/a
2	chr2:11919475-11919525	GM19239	blood:	n/a
3	chr2:11919475-11919525	HIPEpiC	eye:	n/a
4	chr2:11919475-11919525	H1-hESC	embryonic stem cell:	embryo
5	chr2:11919475-11919525	HCT-116	colon:	n/a
6	chr2:11919475-11919525	HRE	kidney:	n/a
7	chr2:11919475-11919525	SAEC	small airway:	n/a
8	chr2:11919475-11919525	GM06990	blood:	n/a
9	chr2:11919475-11919525	K562	blood:	n/a
10	chr2:11919475-11919525	NH-A	brain:	n/a
11	chr2:11919475-11919525	HUVEC	blood vessel:	n/a
12	chr2:11919475-11919525	T-47D	breast:	n/a
13	chr2:11919475-11919525	U87	brain:	n/a
14	chr2:11919475-11919525	SK-N-SH	brain:	n/a
15	chr2:11919475-11919525	Hela-S3	cervix:	n/a
16	chr2:11919475-11919525	PANC-1	pancreas:	n/a
17	chr2:11919475-11919525	MCF10A-Er-Src	breast:	n/a
18	chr2:11919475-11919525	NB4	blood:	n/a
19	chr2:11919475-11919525	HCPEpiC	choroid plexus:	n/a
20	chr2:11919475-11919525	NHDF-neo	bronchial:	n/a
21	chr2:11919475-11919525	HepG2	liver:	n/a
22	chr2:11919475-11919525	HCM	heart:	n/a
23	chr2:11919475-11919525	SK-N-SH_RA	brain:	n/a
24	chr2:11919475-11919525	Jurkat	blood:	n/a
25	chr2:11919475-11919525	HEK293	kidney:	embryo
26	chr2:11919475-11919525	Caco-2	colon:	n/a
27	chr2:11919475-11919525	ProgFib	skin:	n/a
28	chr2:11919475-11919525	AG09309	skin:	n/a
29	chr2:11919475-11919525	AG10803	skin:	n/a
30	chr2:11919475-11919525	HMEC	breast:	n/a
31	chr2:11919475-11919525	GM12891	blood:	n/a
32	chr2:11919475-11919525	LNCaP	prostate:	n/a
33	chr2:11919475-11919525	Hepatocyte	liver:	n/a
34	chr2:11919475-11919525	AG04450	lung:	fetal
35	chr2:11919475-11919525	HNPCEpiC	eye:	n/a
36	chr2:11919475-11919525	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:11919475-11919525	NT2-D1	testis:	n/a
38	chr2:11919475-11919525	RPTEC	kidney:	n/a
39	chr2:11919475-11919525	HCF	heart:	n/a
40	chr2:11919475-11919525	A549	lung:	n/a
41	chr2:11919475-11919525	MCF-7	breast:	n/a
42	chr2:11919475-11919525	SKMC	muscle:	n/a
43	chr2:11919475-11919525	GM12892	blood:	n/a
44	chr2:11919475-11919525	AG04449	skin:	fetal
45	chr2:11919475-11919525	SK-N-MC	brain:	n/a
46	chr2:11919475-11919525	BJ	skin:	n/a
47	chr2:11919475-11919525	IMR90	lung:	fetal
48	chr2:11919475-11919525	AoSMC	blood vessel:	n/a
49	chr2:11919475-11919525	PrEC	prostate:	n/a
50	chr2:11919475-11919525	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11821899..11822785-chr2:11919211..11919733,2	MCF-7	breast:
2	chr2:11878418..11879254-chr2:11919121..11919879,2	MCF-7	breast:
3	chr2:11878641..11879395-chr2:11919018..11919604,3	K562	blood:
4	chr2:11828369..11829399-chr2:11919036..11920400,7	MCF-7	breast:
5	chr2:11821479..11823823-chr2:11918008..11920920,2	K562	blood:
6	chr2:11783107..11783670-chr2:11919080..11919874,2	MCF-7	breast:
7	chr2:11832588..11833837-chr2:11918873..11919890,5	MCF-7	breast:
8	chr2:11832764..11833679-chr2:11919280..11919852,3	MCF-7	breast:
9	chr2:11831783..11832525-chr2:11919378..11919951,2	MCF-7	breast:
10	chr2:11828422..11829094-chr2:11919060..11919602,2	MCF-7	breast:
11	chr2:11878332..11879441-chr2:11918884..11919993,17	MCF-7	breast:
12	chr2:11832816..11833693-chr2:11918698..11919916,5	K562	blood:
13	chr2:11885343..11888558-chr2:11916972..11921085,4	K562	blood:
14	chr2:11890007..11892295-chr2:11917973..11920590,2	K562	blood:
15	chr2:11821899..11822488-chr2:11919078..11919729,2	K562	blood:
16	chr2:11809666..11810649-chr2:11919086..11919666,2	MCF-7	breast:
17	chr2:11828002..11829194-chr2:11918509..11920102,11	K562	blood:
18	chr2:11907435..11907967-chr2:11919021..11919737,2	K562	blood:
19	chr2:11886709..11887370-chr2:11919036..11919758,2	MCF-7	breast:
20	chr2:11827540..11829449-chr2:11917800..11919744,2	K562	blood:
21	chr2:11827186..11829449-chr2:11917800..11920938,3	K562	blood:

Variant related genes	Relation type
LPIN1	TF binding region
LPIN1	CpG island
ENSG00000265056	Chromatin interaction
ENSG00000228496	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000230790	Chromatin interaction
ENSG00000169006	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10177523	1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs10520097	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs11679358	0.85[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.95[ASN][1000 genomes]
rs11694797	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs11695081	0.85[CEU][hapmap]
rs11695610	0.85[CEU][hapmap]
rs13384037	1.00[YRI][hapmap]
rs13390952	1.00[YRI][hapmap]
rs17603197	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs17603755	0.90[CEU][hapmap]
rs2358125	0.99[ASN][1000 genomes]
rs3762583	0.86[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs4129758	0.95[ASN][1000 genomes]
rs62113359	0.95[ASN][1000 genomes]
rs62114960	0.95[ASN][1000 genomes]
rs7587836	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11906400-11924600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:11906600-11924800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:11906800-11924600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:11912600-11920400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11914000-11919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:11914800-11920200	Weak transcription	Fetal Lung	lung
7	chr2:11915000-11923200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:11915200-11919600	Weak transcription	Ovary	ovary
9	chr2:11915800-11921000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr2:11915800-11921600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:11915800-11922000	Weak transcription	Fetal Kidney	kidney
12	chr2:11916800-11961200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:11917000-11919800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:11917200-11921000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:11917400-11919800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr2:11917400-11919800	Enhancers	Psoas Muscle	Psoas
17	chr2:11917400-11920400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:11917400-11922800	Weak transcription	HSMM	muscle
19	chr2:11918000-11919600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:11918000-11919600	Genic enhancers	Primary hematopoietic stem cells	blood
21	chr2:11918000-11922400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:11918200-11919600	Enhancers	Colonic Mucosa	Colon
23	chr2:11918200-11919800	Genic enhancers	Fetal Thymus	thymus
24	chr2:11918200-11919800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr2:11918200-11919800	Enhancers	Small Intestine	intestine
26	chr2:11918400-11919600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:11918400-11919600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:11918400-11919800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:11918400-11919800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr2:11918400-11919800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr2:11918400-11919800	Enhancers	Fetal Intestine Small	intestine
32	chr2:11918400-11919800	Weak transcription	Thymus	Thymus
33	chr2:11918400-11919800	Genic enhancers	Dnd41	blood
34	chr2:11918400-11919800	Genic enhancers	NHDF-Ad	bronchial
35	chr2:11918400-11920400	Weak transcription	Gastric	stomach
36	chr2:11918600-11919600	Genic enhancers	Primary B cells from cord blood	blood
37	chr2:11918600-11919600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:11918600-11919600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:11918600-11919800	Enhancers	Fetal Brain Female	brain
40	chr2:11918600-11920200	Weak transcription	Lung	lung
41	chr2:11918600-11920400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:11918600-11920400	Weak transcription	Esophagus	oesophagus
43	chr2:11918600-11923200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:11918800-11919600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:11918800-11919600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:11918800-11919800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:11918800-11919800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:11918800-11919800	Genic enhancers	Liver	Liver
49	chr2:11919000-11919600	Flanking Active TSS	Osteobl	bone
50	chr2:11919000-11919800	Enhancers	HUES48 Cell Line	embryonic stem cell

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