Variant report

Variant	rs17153987
Chromosome Location	chr11:59379521-59379522
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	chr11:59379283-59379820	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:59379373-59379906	GM12891	blood:	n/a	n/a
3	JUND	chr11:59379383-59379724	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:59378695-59381057	K562	blood:	n/a	n/a
5	MAFK	chr11:59379357-59379605	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:59379190-59379744	GM12878	blood:	n/a	n/a
7	TEAD4	chr11:59379282-59379712	HepG2	liver:	n/a	n/a
8	GATA3	chr11:59379279-59379748	T-47D	breast:	n/a	n/a
9	POLR2A	chr11:59379286-59379757	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:59379358-59379869	K562	blood:	n/a	n/a
11	POLR2A	chr11:59379203-59379567	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:59378615-59379757	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:59379125-59379803	MCF10A-Er-Src	breast:	n/a	n/a
14	HNF4G	chr11:59379177-59379764	HepG2	liver:	n/a	chr11:59379477-59379490 chr11:59379476-59379491 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491 chr11:59379474-59379489 chr11:59379477-59379489 chr11:59379474-59379486 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491
15	HNF4A	chr11:59379258-59379682	HepG2	liver:	n/a	chr11:59379477-59379490 chr11:59379476-59379491 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379474-59379486 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491
16	HNF4A	chr11:59379247-59379657	HepG2	liver:	n/a	chr11:59379477-59379490 chr11:59379476-59379491 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379474-59379486 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491
17	MAFF	chr11:59379343-59379605	HepG2	liver:	n/a	n/a
18	HNF4G	chr11:59379228-59379660	HepG2	liver:	n/a	chr11:59379477-59379490 chr11:59379476-59379491 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491 chr11:59379474-59379489 chr11:59379477-59379489 chr11:59379474-59379486 chr11:59379476-59379491 chr11:59379477-59379489 chr11:59379476-59379491
19	POLR2A	chr11:59379310-59380673	HepG2	liver:	n/a	n/a
20	SMC3	chr11:59379365-59379732	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:59379312-59380052	K562	blood:	n/a	n/a
22	POLR2A	chr11:59379179-59379911	GM12892	blood:	n/a	n/a
23	POLR2A	chr11:59379153-59380439	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:59379263-59379574	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:59379089-59379847	K562	blood:	n/a	n/a
26	POLR2A	chr11:59379156-59379895	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
2	chr11:59362508..59365255-chr11:59378234..59380693,3	K562	blood:
3	chr11:59340962..59342782-chr11:59376375..59380389,3	K562	blood:
4	chr11:59379168..59382086-chr11:59390043..59391768,2	MCF-7	breast:
5	chr11:59309329..59311189-chr11:59379194..59381372,2	K562	blood:
6	chr11:59379146..59381021-chr11:59381463..59383297,2	MCF-7	breast:
7	chr11:59370209..59373051-chr11:59379032..59380863,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255139	TF binding region
ENSG00000110048	Chromatin interaction
ENSG00000264559	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17153863	1.00[AMR][1000 genomes]
rs17153877	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs17153914	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17153928	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17153977	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3015969	0.85[YRI][hapmap]
rs3949113	0.89[AFR][1000 genomes]
rs4040	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7103832	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7125454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128845	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7927216	1.00[AMR][1000 genomes]
rs7942872	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1833978	chr11:59377543-59383631	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS 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
2	esv1842135	chr11:59377543-59383631	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	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	chr11:59334200-59382000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:59343800-59382000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:59354600-59379600	Strong transcription	Thymus	Thymus
4	chr11:59355800-59379800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:59357800-59380600	Strong transcription	Primary B cells from cord blood	blood
6	chr11:59358400-59382000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:59376200-59381200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:59376400-59382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:59376600-59380200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:59376800-59380800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:59377800-59381200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:59378000-59379600	Weak transcription	Aorta	Aorta
13	chr11:59378000-59380200	Weak transcription	HMEC	breast
14	chr11:59378000-59380600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:59378000-59380800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:59378000-59381200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:59378000-59381400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
18	chr11:59378000-59382000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:59378000-59382000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:59378000-59382000	Weak transcription	Lung	lung
21	chr11:59378200-59379600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr11:59378200-59379800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:59378200-59380000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:59378200-59380200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr11:59378200-59380400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:59378200-59380600	Weak transcription	Fetal Thymus	thymus
27	chr11:59378200-59381200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:59378200-59381200	Weak transcription	NH-A	brain
29	chr11:59378200-59381400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:59378200-59381600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:59378200-59381600	Enhancers	Fetal Intestine Large	intestine
32	chr11:59378200-59381800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr11:59378400-59379600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:59378400-59380200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:59378400-59380200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:59378400-59380400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:59378400-59380600	Weak transcription	Gastric	stomach
38	chr11:59378400-59381000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:59378600-59379600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr11:59378600-59379800	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:59378600-59379800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr11:59378600-59380800	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr11:59378600-59380800	Genic enhancers	HepG2	liver
44	chr11:59378600-59381400	Enhancers	Brain Germinal Matrix	brain
45	chr11:59378800-59379600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:59378800-59379800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:59378800-59380400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:59378800-59380800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:59378800-59380800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr11:59378800-59380800	Enhancers	HSMM	muscle

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