Variant report

Variant	rs34605721
Chromosome Location	chr2:97202970-97202971
allele	-/A
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	JUND	chr2:97202195-97203093	K562	blood:	n/a	chr2:97202364-97202373 chr2:97202402-97202411
2	SRF	chr2:97202793-97202981	GM12878	blood:	n/a	n/a
3	SPI1	chr2:97202813-97203011	GM12878	blood:	n/a	n/a
4	MAZ	chr2:97202161-97205367	GM12878	blood:	n/a	chr2:97204472-97204482 chr2:97202991-97203000
5	GABPA	chr2:97202104-97203193	K562	blood:	n/a	chr2:97202363-97202372 chr2:97202731-97202740
6	REST	chr2:97202715-97203101	PFSK-1	brain:	n/a	chr2:97203012-97203026
7	RUNX3	chr2:97202174-97203306	GM12878	blood:	n/a	n/a
8	TAF1	chr2:97202817-97203112	GM12891	blood:	n/a	n/a
9	NFIC	chr2:97202568-97203278	GM12878	blood:	n/a	chr2:97202705-97202722
10	MAX	chr2:97202554-97203327	ECC-1	luminal epithelium:	n/a	chr2:97202991-97203000
11	POLR2A	chr2:97202101-97206221	GM12878	blood:	n/a	n/a
12	NRF1	chr2:97202669-97203330	GM12878	blood:	n/a	chr2:97202731-97202740
13	POLR2A	chr2:97202731-97203144	HUVEC	blood vessel:	n/a	n/a
14	REST	chr2:97202324-97203350	HL-60	blood:	n/a	chr2:97203012-97203026 chr2:97202585-97202598 chr2:97202714-97202727 chr2:97202588-97202601
15	PAX5	chr2:97202263-97203316	GM12892	blood:	n/a	chr2:97202916-97202925
16	CEBPB	chr2:97202866-97203042	GM12878	blood:	n/a	n/a
17	NFYB	chr2:97202101-97203092	GM12878	blood:	n/a	n/a
18	ELF1	chr2:97202170-97204397	GM12878	blood:	n/a	chr2:97203252-97203264 chr2:97203025-97203034 chr2:97202915-97202928 chr2:97202363-97202375
19	POLR2A	chr2:97202318-97204648	GM12878	blood:	n/a	n/a
20	RCOR1	chr2:97202198-97203229	GM12878	blood:	n/a	n/a
21	SPI1	chr2:97202693-97203467	GM12878	blood:	n/a	chr2:97203214-97203227 chr2:97203199-97203212
22	MAZ	chr2:97202181-97204671	IMR90	lung:	n/a	chr2:97204472-97204482 chr2:97202991-97203000
23	KAT2A	chr2:97202886-97203180	GM12878	blood:	n/a	n/a
24	RELA	chr2:97202276-97203157	GM18526	blood:	n/a	n/a
25	MEF2A	chr2:97202185-97203200	GM12878	blood:	n/a	n/a
26	ZNF143	chr2:97201650-97203066	GM12878	blood:	n/a	chr2:97202328-97202337 chr2:97202326-97202344 chr2:97202631-97202641 chr2:97202330-97202349 chr2:97202630-97202640 chr2:97202326-97202335
27	ZBTB7A	chr2:97202206-97203356	K562	blood:	n/a	chr2:97203275-97203284 chr2:97203193-97203202
28	BATF	chr2:97202720-97203080	GM12878	blood:	n/a	n/a
29	MXI1	chr2:97202087-97203358	IMR90	lung:	n/a	n/a
30	MYBL2	chr2:97202697-97203158	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:97202242-97203963	IMR90	lung:	n/a	n/a
32	RELA	chr2:97202135-97203158	GM18951	blood:	n/a	n/a
33	MAX	chr2:97202218-97203060	Hela-S3	cervix:	n/a	chr2:97202991-97203000
34	MYC	chr2:97202137-97203415	NB4	blood:	n/a	chr2:97202991-97203000
35	MAX	chr2:97202139-97203881	GM12878	blood:	n/a	chr2:97202991-97203000
36	FOXP2	chr2:97202830-97203185	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr2:97202285-97204817	GM15510	blood:	n/a	n/a
38	ZBTB7A	chr2:97202158-97203367	ECC-1	luminal epithelium:	n/a	chr2:97203275-97203284 chr2:97203193-97203202
39	YY1	chr2:97202098-97203129	GM12892	blood:	n/a	chr2:97203020-97203034 chr2:97202630-97202644 chr2:97203049-97203063 chr2:97202363-97202372 chr2:97203022-97203031 chr2:97203093-97203104 chr2:97202984-97202993
40	SMARCB1	chr2:97202380-97203713	Hela-S3	cervix:	n/a	n/a
41	RUNX3	chr2:97202181-97203339	GM12878	blood:	n/a	n/a
42	USF1	chr2:97202855-97203095	K562	blood:	n/a	chr2:97202975-97202991
43	MAX	chr2:97202789-97203365	SK-N-SH	brain:	n/a	chr2:97202991-97203000
44	MYC	chr2:97202252-97203140	K562	blood:	n/a	chr2:97202991-97203000
45	POLR2A	chr2:97202223-97205222	HL-60	blood:	n/a	n/a
46	POLR2A	chr2:97202240-97204876	GM18526	blood:	n/a	n/a
47	NFATC1	chr2:97202689-97203156	GM12878	blood:	n/a	n/a
48	YY1	chr2:97202224-97203237	K562	blood:	n/a	chr2:97203020-97203034 chr2:97202630-97202644 chr2:97203049-97203063 chr2:97202363-97202372 chr2:97203196-97203207 chr2:97203022-97203031 chr2:97203093-97203104 chr2:97202984-97202993
49	PBX3	chr2:97202818-97203064	GM12878	blood:	n/a	n/a
50	EP300	chr2:97202771-97203710	GM12878	blood:	n/a	chr2:97203223-97203237 chr2:97203245-97203261 chr2:97203023-97203032 chr2:97203073-97203082 chr2:97203225-97203239 chr2:97203515-97203531 chr2:97203022-97203031 chr2:97202917-97202926 chr2:97202968-97202984 chr2:97203211-97203225

No.	Distal block	Cell Line	Cell type
1	chr2:97202384..97205156-chr2:97301374..97305632,4	K562	blood:
2	chr2:97202384..97205156-chr2:97302029..97304901,3	K562	blood:
3	chr2:96873119..96874915-chr2:97202040..97204570,2	K562	blood:
4	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
5	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235480	TF binding region
ARID5A	TF binding region
ENSG00000204685	Chromatin interaction
ENSG00000163121	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000084090	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3341950	chr2:97201450-97203998	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 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	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
2	chr2:97202000-97204600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:97202000-97205200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:97202200-97203000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:97202200-97203000	Active TSS	Colonic Mucosa	Colon
6	chr2:97202200-97203200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:97202200-97203200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:97202200-97203200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:97202200-97203200	Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:97202200-97203200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:97202200-97203200	Active TSS	Esophagus	oesophagus
12	chr2:97202200-97203200	Bivalent/Poised TSS	HepG2	liver
13	chr2:97202200-97203600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr2:97202200-97203600	Active TSS	Brain Substantia Nigra	brain
15	chr2:97202200-97203600	Active TSS	NHLF	lung
16	chr2:97202200-97203800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:97202200-97203800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:97202200-97204000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:97202200-97204000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:97202200-97204000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr2:97202200-97204200	Active TSS	Brain Anterior Caudate	brain
22	chr2:97202200-97204400	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:97202200-97204600	Active TSS	Primary T cells from cord blood	blood
24	chr2:97202400-97203000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:97202400-97203000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:97202400-97203000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:97202400-97203000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:97202400-97203000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr2:97202400-97203000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr2:97202400-97203000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr2:97202400-97203000	Active TSS	Duodenum Mucosa	Duodenum
32	chr2:97202400-97203000	Active TSS	Placenta Amnion	Placenta Amnion
33	chr2:97202400-97203000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr2:97202400-97203000	Active TSS	HMEC	breast
35	chr2:97202400-97203200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:97202400-97203200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:97202400-97203200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:97202400-97203200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:97202400-97203200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:97202400-97203200	Active TSS	Primary B cells from peripheral blood	blood
41	chr2:97202400-97203200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:97202400-97203200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr2:97202400-97203200	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr2:97202400-97203200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:97202400-97203200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:97202400-97203200	Active TSS	Adipose Nuclei	Adipose
47	chr2:97202400-97203200	Active TSS	Liver	Liver
48	chr2:97202400-97203200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
49	chr2:97202400-97203200	Active TSS	Fetal Muscle Leg	muscle
50	chr2:97202400-97203200	Active TSS	Pancreas	Pancrea

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