Variant report

Variant	rs575253108
Chromosome Location	chr11:74952938-74952939
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:325)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr11:74952695-74953022	K562	blood:	n/a	n/a
2	REST	chr11:74952830-74953013	HepG2	liver:	n/a	n/a
3	MAX	chr11:74952029-74953350	A549	lung:	n/a	n/a
4	BHLHE40	chr11:74952360-74953143	K562	blood:	n/a	n/a
5	CTCF	chr11:74952695-74953022	Kidney_OC	kidney:	n/a	n/a
6	TAF1	chr11:74951962-74953051	H1-neurons	neurons:	n/a	n/a
7	MYC	chr11:74952294-74953531	A549	lung:	n/a	n/a
8	TCF12	chr11:74952471-74953059	A549	lung:	n/a	n/a
9	ETS1	chr11:74952651-74953005	K562	blood:	n/a	n/a
10	HEY1	chr11:74952593-74952949	HepG2	liver:	n/a	n/a
11	YY1	chr11:74952576-74952957	GM12891	blood:	n/a	n/a
12	BRCA1	chr11:74952733-74952941	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFIC	chr11:74952425-74953080	ECC-1	luminal epithelium:	n/a	n/a
14	ELF1	chr11:74952631-74952975	K562	blood:	n/a	n/a
15	TAF7	chr11:74952420-74953074	H1-hESC	embryonic stem cell:	n/a	n/a
16	REST	chr11:74951784-74953454	H1-neurons	neurons:	n/a	chr11:74953370-74953383 chr11:74952124-74952137 chr11:74952148-74952161 chr11:74952066-74952076 chr11:74952103-74952116
17	SETDB1	chr11:74952557-74952997	U2OS	brain:	n/a	n/a
18	CTCF	chr11:74952519-74953206	K562	blood:	n/a	n/a
19	CTCF	chr11:74952800-74952950	GM12878	blood:	n/a	n/a
20	GTF2F1	chr11:74952799-74952952	K562	blood:	n/a	n/a
21	REST	chr11:74952382-74953003	HepG2	liver:	n/a	n/a
22	CTCF	chr11:74952659-74953002	H1-hESC	embryonic stem cell:	n/a	n/a
23	SIN3A	chr11:74951461-74953278	H1-hESC	embryonic stem cell:	n/a	chr11:74952307-74952320 chr11:74951502-74951516 chr11:74952067-74952076
24	RAD21	chr11:74952677-74952967	GM12878	blood:	n/a	n/a
25	E2F6	chr11:74952103-74953210	A549	lung:	n/a	chr11:74952355-74952364 chr11:74952329-74952338 chr11:74952505-74952517
26	EP300	chr11:74952766-74953012	HepG2	liver:	n/a	n/a
27	CTCF	chr11:74952639-74953054	Spleen_OC	spleen:	n/a	n/a
28	TCF7L2	chr11:74952513-74953031	HCT-116	colon:	n/a	n/a
29	ELF1	chr11:74952795-74952954	HepG2	liver:	n/a	n/a
30	POLR2A	chr11:74952132-74953187	MCF-7	breast:	n/a	n/a
31	JUN	chr11:74952189-74953323	K562	blood:	n/a	n/a
32	CTCF	chr11:74952639-74953063	GM19238	blood:	n/a	n/a
33	CTCF	chr11:74952722-74952993	A549	lung:	n/a	n/a
34	CREB1	chr11:74952592-74953102	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:74952680-74953018	GM12878	blood:	n/a	n/a
36	EGR1	chr11:74952716-74953023	K562	blood:	n/a	n/a
37	RAD21	chr11:74952620-74953093	SK-N-SH_RA	brain:	n/a	n/a
38	CEBPB	chr11:74952788-74952979	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr11:74952800-74952950	GM12866	blood:	n/a	n/a
40	POLR2A	chr11:74952037-74953321	H1-neurons	neurons:	n/a	n/a
41	CTCF	chr11:74952595-74953079	K562	blood:	n/a	n/a
42	RAD21	chr11:74952550-74953057	H1-hESC	embryonic stem cell:	n/a	n/a
43	REST	chr11:74952649-74953050	A549	lung:	n/a	n/a
44	YY1	chr11:74952561-74952981	HCT-116	colon:	n/a	n/a
45	RAD21	chr11:74952604-74953102	ECC-1	luminal epithelium:	n/a	n/a
46	CTCF	chr11:74952660-74953006	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr11:74952668-74953049	GM19240	blood:	n/a	n/a
48	CTCF	chr11:74952563-74953073	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr11:74952673-74953027	LNCaP	prostate:	n/a	n/a
50	CTCF	chr11:74952619-74953061	GM12891	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74733622..74734624-chr11:74952400..74953312,9	MCF-7	breast:
2	chr11:74915518..74916204-chr11:74952277..74953016,2	MCF-7	breast:
3	chr11:74742652..74743217-chr11:74952410..74953405,2	K562	blood:
4	chr11:74925000..74926013-chr11:74952324..74953354,12	MCF-7	breast:
5	chr11:74640083..74642436-chr11:74952777..74954746,3	MCF-7	breast:
6	chr11:74925158..74925973-chr11:74952278..74953089,3	K562	blood:
7	chr11:74855250..74856195-chr11:74952793..74953318,2	K562	blood:
8	chr11:74660462..74662157-chr11:74951131..74952954,2	K562	blood:
9	chr11:74952768..74954538-chr11:74955270..74959114,3	K562	blood:
10	chr11:74733402..74734825-chr11:74952350..74953292,7	K562	blood:
11	chr11:74924673..74926005-chr11:74952370..74953068,4	MCF-7	breast:
12	chr11:74659830..74661713-chr11:74952303..74954332,2	MCF-7	breast:
13	chr11:74733768..74734574-chr11:74952444..74953243,2	MCF-7	breast:
14	chr11:74855244..74856442-chr11:74952713..74953475,5	MCF-7	breast:
15	chr11:74657727..74660130-chr11:74951983..74953797,2	K562	blood:
16	chr11:74952691..74953296-chr11:75095152..75095848,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255136	TF binding region
ENSG00000166435	Chromatin interaction
ENSG00000118363	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	esv3338705	chr11:74950304-74954802	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3357620	chr11:74951054-74954252	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3416910	chr11:74951204-74954302	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3322804	chr11:74951829-74954677	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74951000-74953200	Active TSS	Brain Anterior Caudate	brain
2	chr11:74951000-74953400	Active TSS	Brain Angular Gyrus	brain
3	chr11:74951000-74953600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr11:74951400-74953000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr11:74951400-74953200	Bivalent/Poised TSS	NHEK	skin
6	chr11:74951400-74953400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:74951400-74953400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
8	chr11:74951400-74953400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr11:74951400-74953400	Active TSS	Right Atrium	heart
10	chr11:74951400-74953600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:74951400-74953600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:74951400-74953600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:74951400-74953600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr11:74951400-74953600	Enhancers	Liver	Liver
16	chr11:74951600-74953000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:74951600-74953000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:74951600-74953000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:74951600-74953000	Flanking Active TSS	Right Ventricle	heart
20	chr11:74951600-74953200	Active TSS	Primary T cells from cord blood	blood
21	chr11:74951600-74953200	Active TSS	Brain Substantia Nigra	brain
22	chr11:74951600-74953200	Bivalent/Poised TSS	HSMMtube	muscle
23	chr11:74951600-74953400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:74951600-74953400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr11:74951600-74953400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:74951600-74953400	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:74951600-74953400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:74951600-74953400	Bivalent/Poised TSS	HepG2	liver
30	chr11:74951600-74953400	Bivalent/Poised TSS	Osteobl	bone
31	chr11:74951600-74953600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr11:74951800-74953000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:74951800-74953200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:74951800-74953200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:74951800-74953400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:74951800-74953400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:74951800-74953400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:74951800-74953400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:74951800-74953400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:74951800-74953600	Bivalent/Poised TSS	HSMM	muscle
41	chr11:74952000-74953000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:74952000-74953000	Active TSS	Adipose Nuclei	Adipose
43	chr11:74952000-74953000	Active TSS	NH-A	brain
44	chr11:74952000-74953200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:74952000-74953200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:74952000-74953200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr11:74952000-74953200	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr11:74952000-74953200	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr11:74952000-74953200	Active TSS	Gastric	stomach
50	chr11:74952000-74953200	Flanking Active TSS	Pancreas	Pancrea

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