Variant report

Variant	rs2150151
Chromosome Location	chr13:110440288-110440289
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	MXI1	chr13:110431145-110440503	SK-N-SH	brain:	n/a	chr13:110439837-110439852 chr13:110440136-110440145
2	MAZ	chr13:110437525-110440521	IMR90	lung:	n/a	chr13:110439018-110439028 chr13:110439313-110439323
3	POLR2A	chr13:110438646-110440459	HL-60	blood:	n/a	n/a
4	ZBTB7A	chr13:110439091-110440310	ECC-1	luminal epithelium:	n/a	chr13:110439693-110439702 chr13:110439264-110439271
5	TAF1	chr13:110437993-110440294	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr13:110436486-110440423	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr13:110437289-110440346	H1-neurons	neurons:	n/a	chr13:110439012-110439025 chr13:110439607-110439620 chr13:110439846-110439859
8	SIN3A	chr13:110438551-110440365	H1-hESC	embryonic stem cell:	n/a	chr13:110439607-110439620 chr13:110438565-110438578 chr13:110439579-110439590
9	POLR2A	chr13:110431400-110440383	NB4	blood:	n/a	n/a
10	POLR2A	chr13:110429835-110441120	MCF10A-Er-Src	breast:	n/a	n/a
11	SMC3	chr13:110438759-110440350	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr13:110431377-110440356	Hela-S3	cervix:	n/a	n/a
13	MYC	chr13:110436924-110440321	NB4	blood:	n/a	chr13:110438970-110438980 chr13:110439018-110439028 chr13:110439313-110439323
14	MAZ	chr13:110438706-110440328	K562	blood:	n/a	chr13:110439018-110439028 chr13:110439313-110439323
15	POLR2A	chr13:110433254-110440498	HL-60	blood:	n/a	n/a
16	CTCF	chr13:110440140-110440290	HCPEpiC	choroid plexus:	n/a	n/a
17	TBP	chr13:110438746-110440358	K562	blood:	n/a	n/a
18	POLR2A	chr13:110438656-110440437	H1-neurons	neurons:	n/a	n/a
19	POLR2A	chr13:110438707-110440292	K562	blood:	n/a	n/a
20	POLR2A	chr13:110431310-110440354	Hela-S3	cervix:	n/a	n/a
21	MAX	chr13:110438749-110440354	NB4	blood:	n/a	chr13:110438970-110438980 chr13:110439018-110439028 chr13:110439313-110439323
22	RAD21	chr13:110440071-110440426	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr13:110439095-110440334	SK-N-SH	brain:	n/a	n/a
24	SMARCC1	chr13:110439433-110440299	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr13:110437519-110440391	H1-hESC	embryonic stem cell:	n/a	n/a
26	CCNT2	chr13:110438073-110440307	K562	blood:	n/a	chr13:110440103-110440112 chr13:110439148-110439157 chr13:110439278-110439287
27	MYC	chr13:110438769-110440337	K562	blood:	n/a	chr13:110438970-110438980 chr13:110439018-110439028 chr13:110439313-110439323
28	HCFC1	chr13:110438651-110440582	Hela-S3	cervix:	n/a	n/a
29	E2F6	chr13:110438164-110440295	K562	blood:	n/a	chr13:110439253-110439265 chr13:110439257-110439264 chr13:110439038-110439047 chr13:110439137-110439144 chr13:110439137-110439144 chr13:110439266-110439281 chr13:110439256-110439265 chr13:110439657-110439671 chr13:110439136-110439148 chr13:110439136-110439144 chr13:110439137-110439144 chr13:110439136-110439145 chr13:110439257-110439264 chr13:110439254-110439269 chr13:110439586-110439595 chr13:110438690-110438700 chr13:110439257-110439264
30	MAZ	chr13:110436867-110440290	Hela-S3	cervix:	n/a	chr13:110439018-110439028 chr13:110439313-110439323
31	POLR2A	chr13:110439287-110440474	K562	blood:	n/a	n/a
32	POLR2A	chr13:110438671-110440343	K562	blood:	n/a	n/a
33	ZBTB7A	chr13:110439063-110440321	ECC-1	luminal epithelium:	n/a	chr13:110439693-110439702 chr13:110439264-110439271
34	POLR2A	chr13:110439414-110440387	PBDE	blood:	n/a	n/a
35	POLR2A	chr13:110440185-110440883	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr13:110438712-110440333	K562	blood:	n/a	n/a
37	SMARCB1	chr13:110435803-110440389	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr13:110438739-110440475	SK-N-MC	brain:	n/a	n/a
39	MAX	chr13:110438683-110440350	A549	lung:	n/a	chr13:110438970-110438980 chr13:110439018-110439028 chr13:110439313-110439323
40	POLR2A	chr13:110438568-110440333	K562	blood:	n/a	n/a
41	EGR1	chr13:110439447-110440351	HCT-116	colon:	n/a	chr13:110440141-110440151 chr13:110439691-110439701 chr13:110439851-110439864 chr13:110439487-110439500 chr13:110439689-110439702
42	NANOG	chr13:110440004-110440384	H1-hESC	embryonic stem cell:	n/a	n/a
43	HMGN3	chr13:110438832-110440294	K562	blood:	n/a	n/a
44	HA-E2F1	chr13:110436924-110440303	Hela-S3	cervix:	n/a	chr13:110439253-110439265 chr13:110439257-110439264 chr13:110439038-110439047 chr13:110439137-110439144 chr13:110439137-110439144 chr13:110439266-110439281 chr13:110439256-110439265 chr13:110439657-110439671 chr13:110439136-110439148 chr13:110439137-110439144 chr13:110439136-110439145 chr13:110439257-110439264 chr13:110439254-110439269 chr13:110439586-110439595 chr13:110438690-110438700 chr13:110439257-110439264
45	POLR2A	chr13:110439108-110440318	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr13:110439149-110440349	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-3	chr13:110439457-110442761	NONHSAT035120

Variant related genes	Relation type
IRS2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
10	nsv826796	chr13:110430886-110442431	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
11	esv1834749	chr13:110431891-110441483	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
12	esv3502965	chr13:110433651-110441049	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
13	esv18455	chr13:110433668-110440305	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	n/a
14	esv1795605	chr13:110435953-110441483	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
15	esv1841056	chr13:110435953-110441483	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	n/a
16	esv1795443	chr13:110435953-110453607	Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	n/a
17	esv3375101	chr13:110437776-110440824	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110435000-110440400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr13:110435800-110440400	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr13:110436000-110440400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr13:110436000-110440600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr13:110436000-110441000	Active TSS	HSMMtube	muscle
6	chr13:110436200-110440400	Active TSS	Brain Angular Gyrus	brain
7	chr13:110436200-110440400	Active TSS	Colon Smooth Muscle	Colon
8	chr13:110436200-110441000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr13:110436400-110440400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:110436400-110440400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr13:110436400-110440400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:110436400-110440600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr13:110436400-110440600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr13:110436600-110440400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:110436600-110440400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr13:110436600-110440400	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr13:110436600-110440400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr13:110436600-110440400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr13:110436600-110440800	Weak transcription	Fetal Heart	heart
20	chr13:110436800-110440400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr13:110436800-110440400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr13:110436800-110440400	Active TSS	NHDF-Ad	bronchial
23	chr13:110436800-110440600	Active TSS	HMEC	breast
24	chr13:110437000-110440400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:110437000-110440400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:110437000-110440400	Active TSS	Aorta	Aorta
27	chr13:110437000-110440400	Active TSS	Brain Cingulate Gyrus	brain
28	chr13:110437000-110440400	Active TSS	Ovary	ovary
29	chr13:110437000-110440400	Active TSS	Psoas Muscle	Psoas
30	chr13:110437000-110440400	Active TSS	Right Atrium	heart
31	chr13:110437000-110440400	Active TSS	NHLF	lung
32	chr13:110437800-110440400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr13:110437800-110440400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:110437800-110440400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr13:110437800-110441000	Active TSS	Muscle Satellite Cultured Cells	--
36	chr13:110437800-110441200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr13:110438800-110440600	Active TSS	K562	blood
38	chr13:110439000-110440400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr13:110439200-110440400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr13:110439200-110440800	Active TSS	A549	lung
41	chr13:110439400-110440400	Active TSS	Brain Substantia Nigra	brain
42	chr13:110439400-110440800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr13:110439600-110440400	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr13:110439600-110440400	Active TSS	Primary T cells from cord blood	blood
45	chr13:110439600-110440400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:110439600-110440400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr13:110439600-110440400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
48	chr13:110439600-110440400	Bivalent/Poised TSS	Thymus	Thymus
49	chr13:110439600-110442000	Enhancers	Fetal Brain Male	brain
50	chr13:110439800-110440400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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