Variant report

Variant	rs192902881
Chromosome Location	chr11:59382370-59382371
allele	C/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	POLR2A	chr11:59382269-59384201	K562	blood:	n/a	n/a
2	POLR2A	chr11:59382265-59383538	MCF-7	breast:	n/a	n/a
3	POLR2A	chr11:59382102-59382948	GM12891	blood:	n/a	n/a
4	USF2	chr11:59381860-59382827	Hela-S3	cervix:	n/a	n/a
5	MYC	chr11:59381773-59382836	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
7	RFX5	chr11:59382116-59384446	SK-N-SH	brain:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
8	MYC	chr11:59382032-59384388	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
9	MAX	chr11:59382276-59384312	HepG2	liver:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
10	SREBP1	chr11:59382112-59385589	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:59381287-59384402	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:59382069-59382482	K562	blood:	n/a	n/a
13	POLR2A	chr11:59382129-59384401	K562	blood:	n/a	n/a
14	PML	chr11:59382043-59384425	GM12878	blood:	n/a	n/a
15	NR2C2	chr11:59382204-59383609	Hela-S3	cervix:	n/a	chr11:59382758-59382767
16	MAX	chr11:59382045-59384383	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
17	JUN	chr11:59381851-59384464	K562	blood:	n/a	chr11:59382373-59382382 chr11:59381962-59381972 chr11:59381962-59381972 chr11:59381963-59381972 chr11:59383442-59383451 chr11:59383245-59383254 chr11:59381962-59381972
18	MAX	chr11:59382063-59382594	K562	blood:	n/a	n/a
19	POLR2A	chr11:59382200-59384325	K562	blood:	n/a	n/a
20	POLR2A	chr11:59382081-59384393	H1-hESC	embryonic stem cell:	n/a	n/a
21	WRNIP1	chr11:59382153-59382749	GM12878	blood:	n/a	n/a
22	MXI1	chr11:59381816-59382689	Hela-S3	cervix:	n/a	n/a
23	MXI1	chr11:59382251-59384323	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:59382174-59384202	GM18526	blood:	n/a	n/a
25	POLR2A	chr11:59382041-59382421	GM12891	blood:	n/a	n/a
26	POLR2A	chr11:59381716-59384311	K562	blood:	n/a	n/a
27	MAZ	chr11:59382300-59384213	Hela-S3	cervix:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
28	POLR2A	chr11:59382305-59382927	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:59382016-59384282	K562	blood:	n/a	n/a
30	POLR2A	chr11:59382146-59384308	GM19193	blood:	n/a	n/a
31	POLR2A	chr11:59382106-59384370	HepG2	liver:	n/a	n/a
32	GATA1	chr11:59381895-59382638	PBDE	blood:	n/a	chr11:59382207-59382228 chr11:59382547-59382557 chr11:59382547-59382554 chr11:59382212-59382221 chr11:59382214-59382221 chr11:59382212-59382222
33	MAZ	chr11:59382084-59384447	IMR90	lung:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
34	MXI1	chr11:59381803-59384654	SK-N-SH	brain:	n/a	n/a
35	GABPA	chr11:59382350-59384092	MCF-7	breast:	n/a	n/a
36	EP300	chr11:59382334-59382749	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:59382205-59382894	GM12891	blood:	n/a	n/a
38	NR2C2	chr11:59382215-59382916	GM12878	blood:	n/a	chr11:59382758-59382767
39	POLR2A	chr11:59382106-59383419	GM12878	blood:	n/a	n/a
40	MTA3	chr11:59382055-59382936	GM12878	blood:	n/a	n/a
41	REST	chr11:59382330-59384145	H1-neurons	neurons:	n/a	chr11:59383253-59383266 chr11:59382684-59382697 chr11:59382755-59382765 chr11:59383861-59383874
42	POLR2A	chr11:59382108-59382887	GM12892	blood:	n/a	n/a
43	POLR2A	chr11:59381764-59384454	HUVEC	blood vessel:	n/a	n/a
44	MAZ	chr11:59382292-59384313	GM12878	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
45	POLR2A	chr11:59382034-59383722	ECC-1	luminal epithelium:	n/a	n/a
46	MAX	chr11:59381891-59382486	K562	blood:	n/a	n/a
47	POLR2A	chr11:59382177-59384184	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr11:59382257-59384351	Raji	blood:	n/a	n/a
49	POLR2A	chr11:59382290-59383423	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr11:59382202-59384141	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
2	chr11:59382346..59384021-chr11:59576839..59579644,2	K562	blood:
3	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
4	chr11:59379146..59381021-chr11:59381463..59383297,2	MCF-7	breast:
5	chr11:59380994..59383091-chr11:59446545..59448432,2	K562	blood:
6	chr11:59373266..59379105-chr11:59379660..59383510,5	MCF-7	breast:
7	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
8	chr11:59369187..59371019-chr11:59381585..59383481,2	MCF-7	breast:
9	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
10	chr11:59332034..59337600-chr11:59380778..59383923,5	K562	blood:
11	chr11:59381028..59383632-chr11:59387004..59389826,3	K562	blood:
12	chr11:59357778..59359857-chr11:59379899..59383236,3	K562	blood:
13	chr11:59322188..59323808-chr11:59380792..59382700,2	K562	blood:
14	chr11:59367319..59373347-chr11:59375671..59384148,16	K562	blood:
15	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:
16	chr11:59367491..59370423-chr11:59380896..59384148,4	K562	blood:
17	chr11:59327475..59330060-chr11:59381628..59383602,2	K562	blood:
18	chr11:59364283..59366462-chr11:59380493..59382759,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255139	TF binding region
ENSG00000166902	Chromatin interaction
ENSG00000255008	Chromatin interaction
ENSG00000110048	Chromatin interaction
ENSG00000166900	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000166889	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	esv3356175	chr11:59382001-59384549	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1795788	chr11:59382306-59383787	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv1803734	chr11:59382306-59383787	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv555148	chr11:59382306-59383823	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr11:59380000-59384400	Active TSS	Psoas Muscle	Psoas
2	chr11:59380600-59384400	Active TSS	Fetal Muscle Trunk	muscle
3	chr11:59380800-59382400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:59380800-59382600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:59381200-59382400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:59381200-59382400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:59381200-59382400	Flanking Active TSS	Fetal Brain Female	brain
8	chr11:59381200-59382400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr11:59381200-59382400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
10	chr11:59381200-59382600	Flanking Active TSS	Liver	Liver
11	chr11:59381200-59382600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr11:59381200-59382600	Flanking Active TSS	Fetal Muscle Leg	muscle
13	chr11:59381200-59382600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:59381200-59382800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:59381200-59382800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:59381400-59382400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr11:59381400-59382400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr11:59381400-59382400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:59381400-59382400	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr11:59381400-59382400	Flanking Active TSS	Brain Germinal Matrix	brain
21	chr11:59381400-59382400	Flanking Active TSS	Fetal Lung	lung
22	chr11:59381400-59382400	Flanking Active TSS	Hela-S3	cervix
23	chr11:59381400-59382400	Flanking Active TSS	NHEK	skin
24	chr11:59381400-59382600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:59381400-59382600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr11:59381400-59382600	Flanking Active TSS	Dnd41	blood
27	chr11:59381400-59382600	Flanking Active TSS	HUVEC	blood vessel
28	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:59381400-59384400	Active TSS	Aorta	Aorta
30	chr11:59381400-59384400	Active TSS	Ovary	ovary
31	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:59381600-59382400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:59381600-59382400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:59381600-59382400	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr11:59381600-59382400	Flanking Active TSS	Thymus	Thymus
36	chr11:59381600-59382400	Flanking Active TSS	NH-A	brain
37	chr11:59381600-59382400	Flanking Active TSS	Osteobl	bone
38	chr11:59381600-59382600	Flanking Active TSS	Fetal Heart	heart
39	chr11:59381600-59382600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr11:59381600-59382600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr11:59381600-59382800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr11:59381600-59382800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr11:59381600-59384000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr11:59381800-59382400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:59381800-59382400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:59381800-59382400	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr11:59381800-59382400	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr11:59381800-59382400	Flanking Active TSS	Fetal Kidney	kidney

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