Variant report

Variant	rs13018837
Chromosome Location	chr2:97202310-97202311
allele	A/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	JUND	chr2:97202195-97203093	K562	blood:	n/a	chr2:97202364-97202373 chr2:97202402-97202411
2	CTCF	chr2:97202180-97202330	Caco-2	colon:	n/a	n/a
3	TAF1	chr2:97202295-97202682	H1-hESC	embryonic stem cell:	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	CTCF	chr2:97202180-97202330	NHDF-neo	bronchial:	n/a	n/a
7	RUNX3	chr2:97202174-97203306	GM12878	blood:	n/a	n/a
8	SP1	chr2:97202076-97202681	A549	lung:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
9	EGR1	chr2:97202178-97202564	K562	blood:	n/a	chr2:97202426-97202440 chr2:97202363-97202373 chr2:97202325-97202349
10	SIX5	chr2:97202117-97202504	A549	lung:	n/a	chr2:97202328-97202337 chr2:97202326-97202335
11	POLR2A	chr2:97202082-97202849	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:97202101-97206221	GM12878	blood:	n/a	n/a
13	CTCF	chr2:97202280-97202430	HCM	heart:	n/a	n/a
14	POLR2A	chr2:97202194-97202682	HepG2	liver:	n/a	n/a
15	PAX5	chr2:97202263-97203316	GM12892	blood:	n/a	chr2:97202916-97202925
16	ZNF384	chr2:97201732-97202536	GM12878	blood:	n/a	n/a
17	E2F4	chr2:97202205-97202569	MCF10A-Er-Src	breast:	n/a	chr2:97202363-97202372
18	NFYB	chr2:97202101-97203092	GM12878	blood:	n/a	n/a
19	CTCF	chr2:97202240-97202390	A549	lung:	n/a	n/a
20	ELF1	chr2:97202170-97204397	GM12878	blood:	n/a	chr2:97203252-97203264 chr2:97203025-97203034 chr2:97202915-97202928 chr2:97202363-97202375
21	SP1	chr2:97201931-97202760	HCT-116	colon:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
22	CTCF	chr2:97202160-97202310	HBMEC	blood vessel:	n/a	n/a
23	RCOR1	chr2:97202198-97203229	GM12878	blood:	n/a	n/a
24	ELF1	chr2:97202164-97202540	HepG2	liver:	n/a	chr2:97202363-97202375
25	MAZ	chr2:97202181-97204671	IMR90	lung:	n/a	chr2:97204472-97204482 chr2:97202991-97203000
26	CTCF	chr2:97202200-97202350	HVMF	connective:	n/a	n/a
27	CTCF	chr2:97202260-97202410	HFF	foreskin:	n/a	n/a
28	RCOR1	chr2:97202153-97202557	HepG2	liver:	n/a	n/a
29	CTCF	chr2:97202276-97202375	GM12878	blood:	n/a	n/a
30	SP4	chr2:97202128-97202545	H1-hESC	embryonic stem cell:	n/a	chr2:97202361-97202372 chr2:97202361-97202377
31	ZBTB7A	chr2:97202110-97202944	K562	blood:	n/a	n/a
32	RELA	chr2:97202276-97203157	GM18526	blood:	n/a	n/a
33	CTCF	chr2:97202180-97202330	MCF-7	breast:	n/a	n/a
34	SP1	chr2:97202200-97202424	K562	blood:	n/a	chr2:97202369-97202383 chr2:97202361-97202373 chr2:97202362-97202376 chr2:97202361-97202373 chr2:97202361-97202372 chr2:97202362-97202371 chr2:97202363-97202372 chr2:97202362-97202371
35	MEF2A	chr2:97202185-97203200	GM12878	blood:	n/a	n/a
36	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
37	ZBTB7A	chr2:97202206-97203356	K562	blood:	n/a	chr2:97203275-97203284 chr2:97203193-97203202
38	MXI1	chr2:97202087-97203358	IMR90	lung:	n/a	n/a
39	POLR2A	chr2:97202242-97203963	IMR90	lung:	n/a	n/a
40	RELA	chr2:97202135-97203158	GM18951	blood:	n/a	n/a
41	MAX	chr2:97202218-97203060	Hela-S3	cervix:	n/a	chr2:97202991-97203000
42	MYC	chr2:97202137-97203415	NB4	blood:	n/a	chr2:97202991-97203000
43	MAX	chr2:97202139-97203881	GM12878	blood:	n/a	chr2:97202991-97203000
44	POLR2A	chr2:97202285-97204817	GM15510	blood:	n/a	n/a
45	ZBTB7A	chr2:97202158-97203367	ECC-1	luminal epithelium:	n/a	chr2:97203275-97203284 chr2:97203193-97203202
46	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
47	RUNX3	chr2:97202181-97203339	GM12878	blood:	n/a	n/a
48	GABPA	chr2:97202246-97202532	HepG2	liver:	n/a	chr2:97202363-97202372
49	TAF1	chr2:97202186-97202696	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr2:97202220-97202370	GM12872	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97202260-97202310	PFSK-1	brain:	n/a
2	chr2:97202260-97202310	HCT-116	colon:	n/a
3	chr2:97202260-97202310	GM12892	blood:	n/a
4	chr2:97202260-97202310	K562	blood:	n/a
5	chr2:97202260-97202310	AG04450	lung:	fetal
6	chr2:97202260-97202310	PrEC	prostate:	n/a
7	chr2:97202260-97202310	H1-hESC	embryonic stem cell:	embryo
8	chr2:97202260-97202310	MCF-7	breast:	n/a
9	chr2:97202260-97202310	AG04449	skin:	fetal
10	chr2:97202260-97202310	ProgFib	skin:	n/a
11	chr2:97202260-97202310	GM12891	blood:	n/a
12	chr2:97202260-97202310	Hepatocyte	liver:	n/a
13	chr2:97202260-97202310	HNPCEpiC	eye:	n/a
14	chr2:97202260-97202310	LNCaP	prostate:	n/a
15	chr2:97202260-97202310	HCPEpiC	choroid plexus:	n/a
16	chr2:97202260-97202310	HAEpiC	amniotic membrane:	n/a
17	chr2:97202260-97202310	SK-N-MC	brain:	n/a
18	chr2:97202260-97202310	AG09319	gingival:	n/a
19	chr2:97202260-97202310	NB4	blood:	n/a
20	chr2:97202260-97202310	NHBE	bronchial:	n/a
21	chr2:97202260-97202310	SK-N-SH	brain:	n/a
22	chr2:97202260-97202310	GM06990	blood:	n/a
23	chr2:97202260-97202310	HMEC	breast:	n/a
24	chr2:97202260-97202310	RPTEC	kidney:	n/a
25	chr2:97202260-97202310	HEEpiC	esophagus:	n/a
26	chr2:97202260-97202310	HepG2	liver:	n/a
27	chr2:97202260-97202310	HPAEpiC	pulmonary alveolar:	n/a
28	chr2:97202260-97202310	SKMC	muscle:	n/a
29	chr2:97202260-97202310	HCM	heart:	n/a
30	chr2:97202260-97202310	AG10803	skin:	n/a
31	chr2:97202260-97202310	SAEC	small airway:	n/a
32	chr2:97202260-97202310	HL-60	blood:	n/a
33	chr2:97202260-97202310	Jurkat	blood:	n/a
34	chr2:97202260-97202310	IMR90	lung:	fetal
35	chr2:97202260-97202310	MCF10A-Er-Src	breast:	n/a
36	chr2:97202260-97202310	GM12878	blood:	n/a
37	chr2:97202260-97202310	A549	lung:	n/a
38	chr2:97202260-97202310	Caco-2	colon:	n/a
39	chr2:97202260-97202310	PANC-1	pancreas:	n/a
40	chr2:97202260-97202310	U87	brain:	n/a
41	chr2:97202260-97202310	GM19239	blood:	n/a
42	chr2:97202260-97202310	CMK	blood:	n/a
43	chr2:97202260-97202310	HIPEpiC	eye:	n/a
44	chr2:97202260-97202310	T-47D	breast:	n/a
45	chr2:97202260-97202310	HEK293	kidney:	embryo
46	chr2:97202260-97202310	HRCEpiC	kidney:	n/a
47	chr2:97202260-97202310	NH-A	brain:	n/a
48	chr2:97202260-97202310	SK-N-SH_RA	brain:	n/a
49	chr2:97202260-97202310	BE2_C	brain:	n/a
50	chr2:97202260-97202310	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48222905..48223893-chr2:97202019..97202875,2	Hela-S3	cervix:
2	chr2:97200182..97202893-chr2:97212843..97214474,2	MCF-7	breast:
3	chr16:2652795..2653544-chr2:97202310..97202810,2	Hela-S3	cervix:
4	chr2:96873119..96874915-chr2:97202040..97204570,2	K562	blood:
5	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
6	chr2:97170365..97172764-chr2:97201540..97203996,4	MCF-7	breast:

Variant related genes	Relation type
ARID5A	TF binding region
ENSG00000235480	TF binding region
ENSG00000235480	CpG island
ARID5A	CpG island
ENSG00000215154	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000163121	Chromatin interaction
ENSG00000257488	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000196843	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:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97194000-97202600	Enhancers	Placenta	Placenta
2	chr2:97194400-97202400	Enhancers	Lung	lung
3	chr2:97197200-97202400	Enhancers	Brain Angular Gyrus	brain
4	chr2:97197200-97202400	Enhancers	Gastric	stomach
5	chr2:97197400-97202400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:97197400-97202400	Enhancers	Psoas Muscle	Psoas
7	chr2:97197800-97202400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:97198000-97202400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:97198000-97202400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:97198000-97202400	Enhancers	Left Ventricle	heart
11	chr2:97198000-97202400	Enhancers	Right Ventricle	heart
12	chr2:97198000-97202400	Enhancers	HMEC	breast
13	chr2:97198200-97202400	Enhancers	Fetal Muscle Leg	muscle
14	chr2:97198200-97202600	Weak transcription	Fetal Kidney	kidney
15	chr2:97198400-97202400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:97198400-97203200	Weak transcription	Fetal Brain Male	brain
17	chr2:97199000-97202400	Weak transcription	Aorta	Aorta
18	chr2:97199600-97202400	Weak transcription	NH-A	brain
19	chr2:97199800-97202400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:97200200-97202400	Enhancers	Fetal Heart	heart
21	chr2:97200600-97202400	Weak transcription	Ovary	ovary
22	chr2:97200600-97202600	Weak transcription	Fetal Lung	lung
23	chr2:97201000-97202400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:97201000-97202400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:97201000-97202600	Weak transcription	NHDF-Ad	bronchial
26	chr2:97201400-97202400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:97201400-97202400	Enhancers	Brain Hippocampus Middle	brain
28	chr2:97201600-97202400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr2:97201600-97202400	Enhancers	Pancreas	Pancrea
30	chr2:97201600-97202400	Enhancers	Right Atrium	heart
31	chr2:97201600-97202400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:97201600-97202400	Enhancers	Spleen	Spleen
33	chr2:97201600-97202400	Flanking Active TSS	GM12878-XiMat	blood
34	chr2:97201800-97202400	Enhancers	Primary B cells from peripheral blood	blood
35	chr2:97201800-97202400	Weak transcription	HSMMtube	muscle
36	chr2:97202000-97202400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:97202000-97202400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:97202000-97202400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:97202000-97202400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:97202000-97202400	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:97202000-97202400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr2:97202000-97202400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr2:97202000-97202400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr2:97202000-97202400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr2:97202000-97202400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:97202000-97202400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:97202000-97202400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:97202000-97202400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr2:97202000-97202400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:97202000-97202400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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