Variant report

Variant	rs550316604
Chromosome Location	chr11:48001784-48001785
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	RAD21	chr11:48001772-48002503	IMR90	lung:	n/a	n/a
2	ZBTB7A	chr11:48001506-48001912	K562	blood:	n/a	n/a
3	CTCF	chr11:48001769-48001889	HepG2	liver:	n/a	n/a
4	CTCF	chr11:48001691-48001839	K562	blood:	n/a	n/a
5	TCF12	chr11:48000765-48002586	ECC-1	luminal epithelium:	n/a	n/a
6	BACH1	chr11:48001120-48001869	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:48001754-48001892	MCF-7	breast:	n/a	n/a
8	CTCF	chr11:48001700-48001850	Caco-2	colon:	n/a	n/a
9	CHD2	chr11:48001553-48003496	Hela-S3	cervix:	n/a	chr11:48001912-48001922
10	POLR2A	chr11:48001764-48002514	ProgFib	skin:	n/a	n/a
11	TCF12	chr11:48000688-48002213	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr11:48001693-48002502	Gliobla	brain:	n/a	n/a
13	MAX	chr11:48001739-48002617	MCF-7	breast:	n/a	chr11:48002136-48002146
14	CTCF	chr11:48001770-48001905	IMR90	lung:	n/a	n/a
15	CTCF	chr11:48001749-48001862	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:48001740-48001890	AG04449	skin:	n/a	n/a
17	RCOR1	chr11:48001722-48002505	K562	blood:	n/a	n/a
18	E2F1	chr11:48001756-48002925	Hela-S3	cervix:	n/a	chr11:48002324-48002333 chr11:48002660-48002669
19	CTCF	chr11:48001680-48001830	AG09319	gingival:	n/a	n/a
20	MAX	chr11:48000671-48002419	ECC-1	luminal epithelium:	n/a	chr11:48002136-48002146
21	MAX	chr11:48001714-48003492	Hela-S3	cervix:	n/a	chr11:48002136-48002146
22	POLR2A	chr11:48001759-48002530	HUVEC	blood vessel:	n/a	n/a
23	HA-E2F1	chr11:48001501-48003119	Hela-S3	cervix:	n/a	chr11:48002324-48002333 chr11:48002660-48002669 chr11:48003009-48003018
24	POLR2A	chr11:48001352-48003808	Hela-S3	cervix:	n/a	n/a
25	RAD21	chr11:48001685-48001929	HepG2	liver:	n/a	n/a
26	RAD21	chr11:48001651-48001936	H1-hESC	embryonic stem cell:	n/a	n/a
27	SMC3	chr11:48001491-48002418	Hela-S3	cervix:	n/a	chr11:48002377-48002387
28	POLR2A	chr11:48000948-48001942	ECC-1	luminal epithelium:	n/a	n/a
29	RAD21	chr11:48001649-48002297	SK-N-SH_RA	brain:	n/a	n/a
30	RCOR1	chr11:48001541-48002265	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr11:48001736-48001857	Fibrobl	skin:	n/a	n/a
32	POLR2A	chr11:48001401-48002579	A549	lung:	n/a	n/a
33	MAZ	chr11:48000925-48004054	Hela-S3	cervix:	n/a	chr11:48002136-48002146
34	RAD21	chr11:48001727-48001991	SK-N-SH_RA	brain:	n/a	n/a
35	JUND	chr11:48001676-48002291	K562	blood:	n/a	chr11:48002236-48002245
36	CTCF	chr11:48001777-48001870	MCF-7	breast:	n/a	n/a
37	POLR2A	chr11:48001628-48002557	A549	lung:	n/a	n/a
38	ELF1	chr11:48001621-48003572	GM12878	blood:	n/a	chr11:48002899-48002911 chr11:48002942-48002954 chr11:48002596-48002608 chr11:48002898-48002907
39	EP300	chr11:48001544-48002417	SK-N-SH	brain:	n/a	chr11:48002175-48002191 chr11:48002181-48002197 chr11:48001605-48001621 chr11:48002241-48002257 chr11:48002238-48002254 chr11:48002097-48002113
40	CTCF	chr11:48001640-48001790	BJ	skin:	n/a	n/a
41	NR3C1	chr11:48001433-48001873	A549	lung:	n/a	chr11:48001625-48001643 chr11:48001621-48001647 chr11:48001621-48001647 chr11:48001627-48001641 chr11:48001626-48001642 chr11:48001627-48001641 chr11:48001626-48001641 chr11:48001626-48001642 chr11:48001627-48001641 chr11:48001621-48001647
42	MXI1	chr11:48001634-48003707	SK-N-SH	brain:	n/a	n/a
43	ZNF384	chr11:48001724-48001849	K562	blood:	n/a	n/a
44	E2F6	chr11:48001777-48002574	K562	blood:	n/a	chr11:48002324-48002333
45	EP300	chr11:48000270-48002405	ECC-1	luminal epithelium:	n/a	chr11:48002175-48002191 chr11:48002181-48002197 chr11:48001605-48001621 chr11:48002241-48002257 chr11:48002238-48002254 chr11:48002097-48002113
46	POLR2A	chr11:48001741-48001834	A549	lung:	n/a	n/a
47	ZMIZ1	chr11:48001640-48001814	K562	blood:	n/a	n/a
48	RAD21	chr11:48000783-48002084	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr11:48001765-48001852	ProgFib	skin:	n/a	n/a
50	TAF1	chr11:48001542-48002491	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:48001761-48001811	Jurkat	blood:	n/a
2	chr11:48001761-48001811	GM12892	blood:	n/a
3	chr11:48001761-48001811	PANC-1	pancreas:	n/a
4	chr11:48001761-48001811	SK-N-MC	brain:	n/a
5	chr11:48001761-48001811	SAEC	small airway:	n/a
6	chr11:48001761-48001811	BJ	skin:	n/a
7	chr11:48001761-48001811	HIPEpiC	eye:	n/a
8	chr11:48001761-48001811	NHDF-neo	bronchial:	n/a
9	chr11:48001761-48001811	SK-N-SH_RA	brain:	n/a
10	chr11:48001761-48001811	HUVEC	blood vessel:	n/a
11	chr11:48001761-48001811	SKMC	muscle:	n/a
12	chr11:48001761-48001811	IMR90	lung:	fetal
13	chr11:48001761-48001811	A549	lung:	n/a
14	chr11:48001761-48001811	HepG2	liver:	n/a
15	chr11:48001761-48001811	NT2-D1	testis:	n/a
16	chr11:48001761-48001811	HCM	heart:	n/a
17	chr11:48001761-48001811	K562	blood:	n/a
18	chr11:48001761-48001811	GM06990	blood:	n/a
19	chr11:48001761-48001811	HRCEpiC	kidney:	n/a
20	chr11:48001761-48001811	HNPCEpiC	eye:	n/a
21	chr11:48001761-48001811	NHBE	bronchial:	n/a
22	chr11:48001761-48001811	HCT-116	colon:	n/a
23	chr11:48001761-48001811	T-47D	breast:	n/a
24	chr11:48001761-48001811	MCF-7	breast:	n/a
25	chr11:48001761-48001811	Hela-S3	cervix:	n/a
26	chr11:48001761-48001811	ProgFib	skin:	n/a
27	chr11:48001761-48001811	GM12878	blood:	n/a
28	chr11:48001761-48001811	HRPEpiC	eye:	n/a
29	chr11:48001761-48001811	HMEC	breast:	n/a
30	chr11:48001761-48001811	ECC-1	luminal epithelium:	n/a
31	chr11:48001761-48001811	HRE	kidney:	n/a
32	chr11:48001761-48001811	MCF10A-Er-Src	breast:	n/a
33	chr11:48001761-48001811	HPAEpiC	pulmonary alveolar:	n/a
34	chr11:48001761-48001811	CMK	blood:	n/a
35	chr11:48001761-48001811	NB4	blood:	n/a
36	chr11:48001761-48001811	SK-N-SH	brain:	n/a
37	chr11:48001761-48001811	GM19239	blood:	n/a
38	chr11:48001761-48001811	AG04449	skin:	fetal
39	chr11:48001761-48001811	Hepatocyte	liver:	n/a
40	chr11:48001761-48001811	AG09309	skin:	n/a
41	chr11:48001761-48001811	BE2_C	brain:	n/a
42	chr11:48001761-48001811	PrEC	prostate:	n/a
43	chr11:48001761-48001811	NH-A	brain:	n/a
44	chr11:48001761-48001811	ovcar-3	ovarian:	n/a
45	chr11:48001761-48001811	AG04450	lung:	fetal
46	chr11:48001761-48001811	HEK293	kidney:	embryo
47	chr11:48001761-48001811	HCPEpiC	choroid plexus:	n/a
48	chr11:48001761-48001811	RPTEC	kidney:	n/a
49	chr11:48001761-48001811	Caco-2	colon:	n/a
50	chr11:48001761-48001811	HL-60	blood:	n/a

Variant related genes	Relation type
PTPRJ	TF binding region
PTPRJ	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1053145	chr11:47967902-48086950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv870381	chr11:47989434-48142648	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
12	esv3396029	chr11:47993857-48241494	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
13	nsv317	chr11:47995903-48007266	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv3393084	chr11:48000076-48004474	Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv3373486	chr11:48001001-48003549	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv3344602	chr11:48001176-48003699	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	esv3346578	chr11:48001401-48004249	Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3340252	chr11:48001426-48003824	Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:48000600-48002000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr11:48000800-48002000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:48001000-48001800	Flanking Active TSS	A549	lung
4	chr11:48001200-48001800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr11:48001200-48001800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:48001200-48001800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
7	chr11:48001200-48001800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr11:48001200-48001800	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr11:48001200-48001800	Enhancers	Spleen	Spleen
10	chr11:48001200-48001800	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr11:48001200-48002000	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:48001200-48003200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr11:48001400-48001800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr11:48001400-48001800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:48001400-48001800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:48001400-48001800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:48001400-48001800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr11:48001400-48001800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:48001400-48001800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr11:48001400-48001800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr11:48001400-48001800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:48001400-48001800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:48001400-48001800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr11:48001400-48001800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:48001400-48001800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:48001400-48001800	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr11:48001400-48001800	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr11:48001400-48001800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
29	chr11:48001400-48001800	Active TSS	Fetal Heart	heart
30	chr11:48001400-48001800	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr11:48001400-48001800	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr11:48001400-48001800	Active TSS	Fetal Kidney	kidney
33	chr11:48001400-48001800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr11:48001400-48001800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr11:48001400-48001800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:48001400-48001800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr11:48001400-48001800	Enhancers	Stomach Mucosa	stomach
38	chr11:48001400-48001800	Flanking Active TSS	Hela-S3	cervix
39	chr11:48001400-48001800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr11:48001400-48001800	Flanking Active TSS	NH-A	brain
41	chr11:48001400-48002000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr11:48001400-48002000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr11:48001400-48002000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr11:48001400-48002400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr11:48001400-48002800	Active TSS	Right Ventricle	heart
46	chr11:48001400-48003000	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr11:48001400-48003000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:48001400-48003000	Active TSS	Brain Germinal Matrix	brain
49	chr11:48001400-48003000	Active TSS	Stomach Smooth Muscle	stomach
50	chr11:48001400-48003200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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