Variant report

Variant	rs190536913
Chromosome Location	chr11:59384214-59384215
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	BHLHE40	chr11:59383108-59384395	GM12878	blood:	n/a	chr11:59383252-59383268
2	RELA	chr11:59382506-59384310	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:59383639-59384303	GM12892	blood:	n/a	n/a
4	ARID3A	chr11:59383035-59384303	HepG2	liver:	n/a	n/a
5	SP1	chr11:59382996-59384423	HCT-116	colon:	n/a	chr11:59383247-59383259 chr11:59383731-59383752 chr11:59383903-59383913 chr11:59383597-59383608 chr11:59383242-59383254 chr11:59383772-59383786 chr11:59383243-59383252 chr11:59383903-59383913 chr11:59383203-59383216 chr11:59383243-59383252 chr11:59383248-59383257 chr11:59383874-59383895 chr11:59383529-59383550 chr11:59383413-59383434 chr11:59383777-59383786 chr11:59383626-59383637 chr11:59383244-59383253
6	IRF1	chr11:59383088-59384322	K562	blood:	n/a	chr11:59383540-59383549 chr11:59383728-59383742 chr11:59383240-59383254
7	POLR2A	chr11:59383722-59384394	GM12878	blood:	n/a	n/a
8	RELA	chr11:59383220-59384247	GM19099	blood:	n/a	n/a
9	POLR2A	chr11:59382967-59384215	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr11:59383494-59384388	K562	blood:	n/a	n/a
11	CREB1	chr11:59382593-59384228	GM12878	blood:	n/a	chr11:59383587-59383600
12	USF2	chr11:59383323-59384282	Hela-S3	cervix:	n/a	n/a
13	MYC	chr11:59382388-59384323	NB4	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
14	ELF1	chr11:59382551-59384345	K562	blood:	n/a	chr11:59382687-59382699
15	POLR2A	chr11:59383833-59384217	ProgFib	skin:	n/a	n/a
16	HCFC1	chr11:59382375-59384474	Hela-S3	cervix:	n/a	n/a
17	RFX5	chr11:59383139-59384352	Hela-S3	cervix:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
18	CHD1	chr11:59383869-59384257	GM12878	blood:	n/a	n/a
19	CHD2	chr11:59383015-59384265	GM12878	blood:	n/a	n/a
20	GTF2F1	chr11:59383693-59384256	K562	blood:	n/a	n/a
21	MYC	chr11:59381776-59384318	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
22	SIN3A	chr11:59383082-59384252	GM12878	blood:	n/a	chr11:59383253-59383266 chr11:59383255-59383266
23	SP1	chr11:59382978-59384230	K562	blood:	n/a	chr11:59383247-59383259 chr11:59383731-59383752 chr11:59383903-59383913 chr11:59383597-59383608 chr11:59383242-59383254 chr11:59383772-59383786 chr11:59383243-59383252 chr11:59383903-59383913 chr11:59383203-59383216 chr11:59383243-59383252 chr11:59383248-59383257 chr11:59383874-59383895 chr11:59383529-59383550 chr11:59383413-59383434 chr11:59383777-59383786 chr11:59383626-59383637 chr11:59383244-59383253
24	RFX5	chr11:59382116-59384446	SK-N-SH	brain:	n/a	chr11:59383441-59383450 chr11:59383539-59383548 chr11:59383423-59383432
25	TBL1XR1	chr11:59384024-59384224	K562	blood:	n/a	n/a
26	TAF1	chr11:59382632-59384292	H1-hESC	embryonic stem cell:	n/a	n/a
27	MYC	chr11:59382032-59384388	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
28	MAX	chr11:59382986-59384333	SK-N-SH	brain:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
29	ELF1	chr11:59382486-59384312	GM12878	blood:	n/a	chr11:59382687-59382699
30	MAX	chr11:59382276-59384312	HepG2	liver:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
31	TCF12	chr11:59382956-59384384	A549	lung:	n/a	chr11:59384136-59384144
32	POLR2A	chr11:59383726-59384216	SK-N-MC	brain:	n/a	n/a
33	JUN	chr11:59383268-59384363	K562	blood:	n/a	chr11:59383442-59383451
34	SREBP1	chr11:59382112-59385589	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:59381287-59384402	GM12891	blood:	n/a	n/a
36	POLR2A	chr11:59382129-59384401	K562	blood:	n/a	n/a
37	PML	chr11:59382043-59384425	GM12878	blood:	n/a	n/a
38	HCFC1	chr11:59382401-59384356	K562	blood:	n/a	n/a
39	POLR2A	chr11:59382573-59384261	HEK293	kidney:	n/a	n/a
40	MAX	chr11:59382991-59384331	A549	lung:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
41	SIX5	chr11:59383385-59384299	A549	lung:	n/a	n/a
42	MAX	chr11:59382045-59384383	K562	blood:	n/a	chr11:59383763-59383774 chr11:59383763-59383774 chr11:59384079-59384089
43	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
44	CBX3	chr11:59383082-59384392	K562	blood:	n/a	n/a
45	CCNT2	chr11:59383821-59384283	K562	blood:	n/a	n/a
46	POLR2A	chr11:59382200-59384325	K562	blood:	n/a	n/a
47	CUX1	chr11:59383388-59384452	K562	blood:	n/a	n/a
48	POLR2A	chr11:59382081-59384393	H1-hESC	embryonic stem cell:	n/a	n/a
49	IRF3	chr11:59383247-59384227	HepG2	liver:	n/a	chr11:59383540-59383549 chr11:59383728-59383742
50	MXI1	chr11:59383115-59384250	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:59313058..59315835-chr11:59384202..59386133,2	K562	blood:
2	chr11:59380013..59385486-chr11:59434648..59438262,9	MCF-7	breast:
3	chr11:59381725..59384642-chr11:59521273..59522941,2	K562	blood:
4	chr11:59379597..59385439-chr11:59434812..59438230,12	K562	blood:
5	chr11:59381899..59384726-chr11:59386703..59391439,4	MCF-7	breast:
6	chr11:59382734..59385576-chr11:59440781..59442919,2	K562	blood:
7	chr11:59324538..59326283-chr11:59383295..59385264,2	K562	blood:
8	chr11:59383955..59385521-chr11:59435044..59437957,2	MCF-7	breast:
9	chr11:59381143..59385193-chr11:59434975..59438411,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STX3-2	chr11:59383619-59385512	NONHSAT021532

Variant related genes	Relation type
OSBP	TF binding region
ENSG00000255139	TF binding region
ENSG00000166900	Chromatin interaction
ENSG00000254477	Chromatin interaction
ENSG00000255139	Chromatin interaction
ENSG00000252893	Chromatin interaction
ENSG00000255355	Chromatin interaction
ENSG00000166889	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv1797571	chr11:59383323-59424688	Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797737	chr11:59383323-59424688	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	esv1802782	chr11:59383323-59448068	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr11:59381400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:59381400-59384400	Active TSS	Aorta	Aorta
5	chr11:59381400-59384400	Active TSS	Ovary	ovary
6	chr11:59381400-59384600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:59381600-59384400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:59381600-59384400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:59381800-59384400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:59381800-59384400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:59381800-59384400	Active TSS	Left Ventricle	heart
12	chr11:59382000-59384400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:59382000-59384400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:59382000-59384400	Active TSS	Esophagus	oesophagus
15	chr11:59382200-59384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:59382200-59384400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:59382200-59384400	Active TSS	Lung	lung
18	chr11:59382200-59384400	Active TSS	Small Intestine	intestine
19	chr11:59382200-59384600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr11:59382200-59384800	Active TSS	A549	lung
21	chr11:59382400-59384400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:59382400-59384400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:59382400-59384400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:59382400-59384400	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr11:59382400-59384400	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:59382400-59384400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:59382400-59384400	Active TSS	Brain Substantia Nigra	brain
28	chr11:59382400-59384400	Active TSS	Colon Smooth Muscle	Colon
29	chr11:59382400-59384400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr11:59382400-59384400	Active TSS	Fetal Brain Female	brain
31	chr11:59382400-59384400	Active TSS	Fetal Kidney	kidney
32	chr11:59382400-59384400	Active TSS	Fetal Lung	lung
33	chr11:59382400-59384400	Active TSS	Right Ventricle	heart
34	chr11:59382400-59384400	Active TSS	Spleen	Spleen
35	chr11:59382400-59384600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:59382400-59384600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:59382400-59384600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr11:59382400-59384600	Active TSS	Brain Anterior Caudate	brain
39	chr11:59382400-59384800	Active TSS	Thymus	Thymus
40	chr11:59382600-59384400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:59382600-59384400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:59382600-59384400	Active TSS	Brain Angular Gyrus	brain
43	chr11:59382600-59384400	Active TSS	Colonic Mucosa	Colon
44	chr11:59382800-59384400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr11:59382800-59384400	Active TSS	Brain Germinal Matrix	brain
46	chr11:59382800-59384800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:59383400-59384400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:59383600-59384400	Active TSS	Fetal Heart	heart
49	chr11:59383600-59384400	Active TSS	Right Atrium	heart
50	chr11:59383600-59384400	Active TSS	Stomach Mucosa	stomach

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