Variant report

Variant	rs148754687
Chromosome Location	chr11:17034682-17034683
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	RXRA	chr11:17034358-17034884	HepG2	liver:	n/a	n/a
2	USF1	chr11:17034370-17034832	A549	lung:	n/a	n/a
3	HDAC2	chr11:17034320-17035088	MCF-7	breast:	n/a	n/a
4	FOSL2	chr11:17034329-17034890	MCF-7	breast:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
5	NR2F2	chr11:17034254-17035658	MCF-7	breast:	n/a	n/a
6	MYC	chr11:17034555-17034800	MCF-7	breast:	n/a	n/a
7	RAD21	chr11:17034293-17034831	HepG2	liver:	n/a	n/a
8	FOSL2	chr11:17034294-17034878	HepG2	liver:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
9	HNF4A	chr11:17034438-17034816	HepG2	liver:	n/a	n/a
10	ARID3A	chr11:17034308-17034849	HepG2	liver:	n/a	n/a
11	CEBPD	chr11:17034466-17034824	HepG2	liver:	n/a	n/a
12	SIN3AK20	chr11:17034181-17035081	A549	lung:	n/a	n/a
13	FOS	chr11:17034294-17034763	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
14	CEBPB	chr11:17034274-17034688	IMR90	lung:	n/a	chr11:17034449-17034460
15	NR3C1	chr11:17034266-17034891	A549	lung:	n/a	chr11:17034529-17034538 chr11:17034530-17034539
16	EP300	chr11:17034233-17034939	HepG2	liver:	n/a	n/a
17	REST	chr11:17034172-17035254	A549	lung:	n/a	n/a
18	MYC	chr11:17034666-17034758	HUVEC	blood vessel:	n/a	n/a
19	TBP	chr11:17034430-17035004	HepG2	liver:	n/a	n/a
20	SP1	chr11:17034420-17034860	HepG2	liver:	n/a	n/a
21	RXRA	chr11:17034360-17035039	HepG2	liver:	n/a	n/a
22	ZNF263	chr11:17034630-17035742	HEK293-T-REx	kidney:	n/a	n/a
23	GABPA	chr11:17034286-17035011	A549	lung:	n/a	n/a
24	FOXA2	chr11:17034226-17035034	A549	lung:	n/a	n/a
25	BCL3	chr11:17034242-17034926	A549	lung:	n/a	n/a
26	EP300	chr11:17034460-17034804	HepG2	liver:	n/a	n/a
27	RCOR1	chr11:17034318-17034946	HepG2	liver:	n/a	n/a
28	MAX	chr11:17034542-17035432	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17034979-17034989
29	FOXA1	chr11:17034323-17035023	HepG2	liver:	n/a	n/a
30	FOSL2	chr11:17034284-17034898	HepG2	liver:	n/a	chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
31	POLR2A	chr11:17034467-17035180	HepG2	liver:	n/a	n/a
32	MYC	chr11:17034530-17034864	HepG2	liver:	n/a	n/a
33	MYBL2	chr11:17034056-17034992	HepG2	liver:	n/a	n/a
34	SP1	chr11:17034067-17035182	A549	lung:	n/a	chr11:17034973-17034987 chr11:17034979-17034993 chr11:17034974-17034983
35	TCF12	chr11:17034332-17034890	A549	lung:	n/a	n/a
36	SIN3A	chr11:17034401-17035824	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr11:17034323-17035634	MCF10A-Er-Src	breast:	n/a	n/a
38	FOXA2	chr11:17034317-17034813	HepG2	liver:	n/a	n/a
39	CEBPB	chr11:17034246-17034919	MCF-7	breast:	n/a	chr11:17034449-17034460
40	NR3C1	chr11:17034127-17034885	A549	lung:	n/a	chr11:17034529-17034538 chr11:17034530-17034539
41	SRF	chr11:17034148-17034806	MCF-7	breast:	n/a	n/a
42	RAD21	chr11:17034510-17034802	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:17034547-17036476	HepG2	liver:	n/a	n/a
44	FOS	chr11:17034310-17034829	MCF10A-Er-Src	breast:	n/a	chr11:17034528-17034539 chr11:17034530-17034538 chr11:17034528-17034540 chr11:17034531-17034542
45	STAT3	chr11:17034288-17034733	MCF10A-Er-Src	breast:	n/a	chr11:17034489-17034500
46	FOXA1	chr11:17034335-17034904	HepG2	liver:	n/a	n/a
47	ETS1	chr11:17034409-17035090	A549	lung:	n/a	chr11:17034887-17034894
48	ZNF217	chr11:17034427-17034834	MCF-7	breast:	n/a	n/a
49	NR3C1	chr11:17033959-17035385	A549	lung:	n/a	chr11:17034529-17034538 chr11:17035145-17035159 chr11:17034530-17034539 chr11:17035061-17035074 chr11:17035104-17035117
50	MAZ	chr11:17034407-17036438	HepG2	liver:	n/a	chr11:17035013-17035023 chr11:17035489-17035499 chr11:17034979-17034989

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17034644-17034694	RPTEC	kidney:	n/a
2	chr11:17034644-17034694	PFSK-1	brain:	n/a
3	chr11:17034644-17034694	HL-60	blood:	n/a
4	chr11:17034644-17034694	NB4	blood:	n/a
5	chr11:17034644-17034694	HNPCEpiC	eye:	n/a
6	chr11:17034644-17034694	HPAEpiC	pulmonary alveolar:	n/a
7	chr11:17034644-17034694	Caco-2	colon:	n/a
8	chr11:17034644-17034694	ovcar-3	ovarian:	n/a
9	chr11:17034644-17034694	AG04450	lung:	fetal
10	chr11:17034644-17034694	HMEC	breast:	n/a
11	chr11:17034644-17034694	SKMC	muscle:	n/a
12	chr11:17034644-17034694	HCM	heart:	n/a
13	chr11:17034644-17034694	HepG2	liver:	n/a
14	chr11:17034644-17034694	NH-A	brain:	n/a
15	chr11:17034644-17034694	ProgFib	skin:	n/a
16	chr11:17034644-17034694	U87	brain:	n/a
17	chr11:17034644-17034694	HIPEpiC	eye:	n/a
18	chr11:17034644-17034694	GM12891	blood:	n/a
19	chr11:17034644-17034694	MCF-7	breast:	n/a
20	chr11:17034644-17034694	SK-N-SH_RA	brain:	n/a
21	chr11:17034644-17034694	LNCaP	prostate:	n/a
22	chr11:17034644-17034694	AG09319	gingival:	n/a
23	chr11:17034644-17034694	GM06990	blood:	n/a
24	chr11:17034644-17034694	HUVEC	blood vessel:	n/a
25	chr11:17034644-17034694	HAEpiC	amniotic membrane:	n/a
26	chr11:17034644-17034694	HCF	heart:	n/a
27	chr11:17034644-17034694	Hepatocyte	liver:	n/a
28	chr11:17034644-17034694	HRCEpiC	kidney:	n/a
29	chr11:17034644-17034694	HRPEpiC	eye:	n/a
30	chr11:17034644-17034694	GM12892	blood:	n/a
31	chr11:17034644-17034694	AoSMC	blood vessel:	n/a
32	chr11:17034644-17034694	A549	lung:	n/a
33	chr11:17034644-17034694	Hela-S3	cervix:	n/a
34	chr11:17034644-17034694	BJ	skin:	n/a
35	chr11:17034644-17034694	GM12878	blood:	n/a
36	chr11:17034644-17034694	NHBE	bronchial:	n/a
37	chr11:17034644-17034694	NHDF-neo	bronchial:	n/a
38	chr11:17034644-17034694	AG04449	skin:	fetal
39	chr11:17034644-17034694	NT2-D1	testis:	n/a
40	chr11:17034644-17034694	BE2_C	brain:	n/a
41	chr11:17034644-17034694	AG09309	skin:	n/a
42	chr11:17034644-17034694	K562	blood:	n/a
43	chr11:17034644-17034694	GM19239	blood:	n/a
44	chr11:17034644-17034694	IMR90	lung:	fetal
45	chr11:17034644-17034694	H1-hESC	embryonic stem cell:	embryo
46	chr11:17034644-17034694	SK-N-SH	brain:	n/a
47	chr11:17034644-17034694	Jurkat	blood:	n/a
48	chr11:17034644-17034694	PrEC	prostate:	n/a
49	chr11:17034644-17034694	HEEpiC	esophagus:	n/a
50	chr11:17034644-17034694	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17034631..17037564-chr11:17097951..17099758,2	MCF-7	breast:
2	chr11:16995340..16999228-chr11:17033547..17036418,3	MCF-7	breast:

Variant related genes	Relation type
OR7E14P	TF binding region
OR7E14P	CpG island
ENSG00000244398	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000251928	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv825771	chr11:17027229-17048360	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	esv3375438	chr11:17034401-17037549	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17019400-17034800	Weak transcription	Lung	lung
2	chr11:17033600-17034800	Bivalent/Poised TSS	Fetal Kidney	kidney
3	chr11:17033600-17034800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
4	chr11:17033800-17034800	Flanking Active TSS	Duodenum Mucosa	Duodenum
5	chr11:17033800-17034800	Bivalent/Poised TSS	Fetal Stomach	stomach
6	chr11:17034000-17035000	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr11:17034200-17034800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:17034200-17034800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr11:17034200-17034800	Bivalent Enhancer	NHLF	lung
10	chr11:17034200-17035000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
11	chr11:17034200-17035000	Active TSS	Colonic Mucosa	Colon
12	chr11:17034200-17035000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:17034200-17035400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:17034200-17035400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:17034200-17035400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:17034200-17035600	Active TSS	Stomach Mucosa	stomach
17	chr11:17034200-17035800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:17034200-17036400	Active TSS	Brain Substantia Nigra	brain
19	chr11:17034200-17036800	Active TSS	Brain Anterior Caudate	brain
20	chr11:17034400-17034800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr11:17034400-17034800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr11:17034400-17034800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:17034400-17034800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:17034400-17034800	Active TSS	Fetal Intestine Large	intestine
25	chr11:17034400-17034800	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr11:17034400-17035000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:17034400-17035600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:17034400-17036400	Active TSS	Osteobl	bone
29	chr11:17034400-17036600	Active TSS	Pancreas	Pancrea
30	chr11:17034400-17036800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:17034400-17037000	Active TSS	Esophagus	oesophagus
32	chr11:17034400-17037000	Active TSS	Fetal Brain Female	brain
33	chr11:17034600-17034800	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:17034600-17034800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
35	chr11:17034600-17034800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr11:17034600-17034800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
37	chr11:17034600-17034800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:17034600-17034800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:17034600-17034800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
40	chr11:17034600-17034800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
41	chr11:17034600-17034800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:17034600-17034800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr11:17034600-17034800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:17034600-17034800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr11:17034600-17034800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:17034600-17034800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:17034600-17034800	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr11:17034600-17034800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr11:17034600-17034800	Flanking Active TSS	Fetal Heart	heart
50	chr11:17034600-17034800	Bivalent Enhancer	Fetal Muscle Leg	muscle

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