Variant report

Variant	rs536693397
Chromosome Location	chr2:179059242-179059243
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	MYC	chr2:179059047-179059445	MCF-7	breast:	n/a	n/a
2	CTCF	chr2:179059160-179059310	Caco-2	colon:	n/a	n/a
3	RAD21	chr2:179058557-179059494	IMR90	lung:	n/a	chr2:179059002-179059012 chr2:179058967-179058977 chr2:179059478-179059492
4	POLR2A	chr2:179058725-179060338	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:179058785-179059561	PFSK-1	brain:	n/a	n/a
6	ZNF143	chr2:179059096-179059374	K562	blood:	n/a	n/a
7	POLR2A	chr2:179058846-179059516	MCF-7	breast:	n/a	n/a
8	POLR2A	chr2:179058538-179059525	Hela-S3	cervix:	n/a	n/a
9	PAX5	chr2:179058829-179059403	GM12892	blood:	n/a	n/a
10	YY1	chr2:179059005-179059452	K562	blood:	n/a	chr2:179059042-179059056
11	SP1	chr2:179059050-179059378	H1-hESC	embryonic stem cell:	n/a	chr2:179059179-179059190
12	POLR2A	chr2:179058666-179059421	A549	lung:	n/a	n/a
13	MAX	chr2:179058449-179060229	K562	blood:	n/a	chr2:179060029-179060039
14	CTCF	chr2:179059140-179059290	HA-sp	spinal cord:	n/a	n/a
15	RAD21	chr2:179058987-179059471	K562	blood:	n/a	chr2:179059002-179059012
16	CTCF	chr2:179059120-179059270	GM12873	blood:	n/a	n/a
17	CTCF	chr2:179059160-179059310	HCM	heart:	n/a	n/a
18	CTCF	chr2:179059140-179059290	AoAF	blood vessel:	n/a	n/a
19	RAD21	chr2:179059152-179059368	HepG2	liver:	n/a	n/a
20	CTCF	chr2:179059109-179059246	GM13976	blood:	n/a	n/a
21	RCOR1	chr2:179058459-179060393	K562	blood:	n/a	n/a
22	POLR2A	chr2:179058850-179059442	HCT-116	colon:	n/a	n/a
23	CTCF	chr2:179059180-179059330	HMEC	breast:	n/a	n/a
24	EP300	chr2:179058828-179060363	SK-N-SH	brain:	n/a	chr2:179059598-179059607 chr2:179059845-179059854 chr2:179059799-179059807 chr2:179059476-179059492 chr2:179060199-179060206
25	CTCF	chr2:179059186-179059289	MCF-7	breast:	n/a	n/a
26	CTCF	chr2:179059140-179059290	GM12875	blood:	n/a	n/a
27	SIN3AK20	chr2:179058802-179060306	SK-N-SH	brain:	n/a	n/a
28	ZBTB7A	chr2:179058765-179060268	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr2:179058810-179059507	HEK293	kidney:	n/a	n/a
30	POLR2A	chr2:179058624-179059568	Gliobla	brain:	n/a	n/a
31	ZBTB7A	chr2:179058652-179060286	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr2:179058759-179059494	HCT-116	colon:	n/a	n/a
33	RAD21	chr2:179059183-179059339	K562	blood:	n/a	n/a
34	CTCF	chr2:179059140-179059290	GM12872	blood:	n/a	n/a
35	POLR2A	chr2:179058840-179059475	K562	blood:	n/a	n/a
36	YY1	chr2:179058680-179059549	HepG2	liver:	n/a	chr2:179058780-179058791 chr2:179059042-179059056
37	CTCF	chr2:179059160-179059310	BJ	skin:	n/a	n/a
38	POLR2A	chr2:179058900-179059478	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr2:179059140-179059290	HCFaa	heart:	n/a	n/a
40	CTCF	chr2:179059140-179059290	HPAF	blood vessel:	n/a	n/a
41	TCF12	chr2:179059076-179059257	H1-hESC	embryonic stem cell:	n/a	n/a
42	GATA2	chr2:179058411-179060151	SH-SY5Y	brain:	n/a	n/a
43	CTCF	chr2:179059143-179059335	GM19240	blood:	n/a	n/a
44	CTCF	chr2:179059160-179059310	GM12868	blood:	n/a	n/a
45	CTCF	chr2:179059149-179059331	ProgFib	skin:	n/a	n/a
46	MAX	chr2:179058157-179059462	Hela-S3	cervix:	n/a	n/a
47	MAZ	chr2:179058826-179059341	HepG2	liver:	n/a	n/a
48	POLR2A	chr2:179058978-179059398	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:179058723-179059553	ECC-1	luminal epithelium:	n/a	n/a
50	JUND	chr2:179058901-179059499	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:178975067..178978289-chr2:179058254..179060575,4	MCF-7	breast:
2	chr2:179057756..179060082-chr2:179314891..179318046,3	MCF-7	breast:
3	chr2:178975761..178978600-chr2:179056476..179059620,3	K562	blood:
4	chr2:179056933..179060923-chr2:179315358..179318702,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RBM45-9	chr2:179059216-179059401	NONHSAT075739

Variant related genes	Relation type
OSBPL6	TF binding region
ENSG00000180228	Chromatin interaction
ENSG00000204311	Chromatin interaction
ENSG00000155636	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv875453	chr2:179022751-179060313	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv875454	chr2:179022751-179066443	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3340257	chr2:179057106-179061404	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv17391	chr2:179058529-179059941	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3409926	chr2:179058531-179061079	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv1821975	chr2:179058577-179059878	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1834988	chr2:179058577-179059878	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1838690	chr2:179058577-179060313	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv1841516	chr2:179058577-179060313	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv583740	chr2:179058681-179059599	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv583741	chr2:179058681-179059658	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv583742	chr2:179058681-179059878	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv583743	chr2:179058714-179059658	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	esv1802318	chr2:179058714-179059878	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv1839900	chr2:179058714-179059878	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv583744	chr2:179058714-179059878	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv583745	chr2:179058818-179059544	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv583746	chr2:179058818-179059599	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	nsv583747	chr2:179058818-179059658	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv583748	chr2:179058818-179059812	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
24	esv1793934	chr2:179058818-179059878	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	esv1800176	chr2:179058818-179059878	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	esv1843270	chr2:179058818-179059878	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	esv1849278	chr2:179058818-179059878	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
28	nsv583749	chr2:179058818-179059878	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	esv1807820	chr2:179058818-179060313	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv583750	chr2:179058921-179059812	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv583751	chr2:179058924-179059658	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	nsv583752	chr2:179059081-179059812	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv583753	chr2:179059208-179059878	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179058000-179060800	Active TSS	NHLF	lung
2	chr2:179058000-179061200	Active TSS	Brain Angular Gyrus	brain
3	chr2:179058200-179059400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:179058200-179059800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr2:179058200-179060400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr2:179058200-179060400	Active TSS	Colon Smooth Muscle	Colon
7	chr2:179058200-179060400	Active TSS	Left Ventricle	heart
8	chr2:179058200-179060400	Active TSS	Rectal Smooth Muscle	rectum
9	chr2:179058200-179060600	Active TSS	Right Ventricle	heart
10	chr2:179058200-179060600	Active TSS	NHDF-Ad	bronchial
11	chr2:179058200-179060800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:179058200-179060800	Active TSS	Right Atrium	heart
13	chr2:179058200-179061000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr2:179058400-179059400	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:179058400-179059400	Bivalent/Poised TSS	Thymus	Thymus
16	chr2:179058400-179059800	Active TSS	Esophagus	oesophagus
17	chr2:179058400-179059800	Active TSS	Lung	lung
18	chr2:179058400-179060000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:179058400-179060000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:179058400-179060400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:179058400-179060400	Active TSS	Aorta	Aorta
22	chr2:179058400-179060400	Active TSS	HSMM	muscle
23	chr2:179058400-179060600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:179058400-179060800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:179058400-179060800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:179058400-179060800	Active TSS	Fetal Kidney	kidney
27	chr2:179058400-179061000	Active TSS	Ovary	ovary
28	chr2:179058400-179061400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:179058400-179061400	Active TSS	Psoas Muscle	Psoas
30	chr2:179058600-179059600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr2:179058600-179059600	Bivalent/Poised TSS	Fetal Thymus	thymus
32	chr2:179058600-179059800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr2:179058600-179059800	Active TSS	Duodenum Mucosa	Duodenum
34	chr2:179058600-179059800	Weak transcription	Fetal Brain Male	brain
35	chr2:179058600-179059800	Active TSS	Fetal Intestine Large	intestine
36	chr2:179058600-179059800	Active TSS	HUVEC	blood vessel
37	chr2:179058600-179060000	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:179058600-179060000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:179058600-179060000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:179058600-179060000	Active TSS	Fetal Brain Female	brain
41	chr2:179058600-179060000	Active TSS	Fetal Lung	lung
42	chr2:179058600-179060000	Active TSS	Gastric	stomach
43	chr2:179058600-179060000	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr2:179058600-179060200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr2:179058600-179060200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:179058600-179060200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:179058600-179060200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr2:179058600-179060200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr2:179058600-179060200	Active TSS	NH-A	brain
50	chr2:179058600-179060200	Active TSS	Osteobl	bone

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