Variant report

Variant	rs550811223
Chromosome Location	chr12:2161712-2161713
allele	-/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	chr12:2160712-2163895	IMR90	lung:	n/a	n/a
2	MXI1	chr12:2160965-2164424	SK-N-SH	brain:	n/a	n/a
3	RAD21	chr12:2160647-2161822	SK-N-SH	brain:	n/a	chr12:2161220-2161239
4	REST	chr12:2160844-2163830	H1-neurons	neurons:	n/a	chr12:2162986-2162999 chr12:2162436-2162449
5	MAZ	chr12:2160983-2164136	IMR90	lung:	n/a	chr12:2163471-2163480 chr12:2161824-2161834 chr12:2161365-2161378 chr12:2161367-2161376 chr12:2161366-2161377 chr12:2161365-2161378 chr12:2161367-2161377 chr12:2161367-2161374 chr12:2162790-2162800 chr12:2161365-2161380 chr12:2161366-2161377
6	SIN3A	chr12:2161384-2161714	H1-hESC	embryonic stem cell:	n/a	n/a
7	E2F6	chr12:2161077-2161729	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr12:2161170-2161813	H1-neurons	neurons:	n/a	n/a
9	REST	chr12:2161058-2161787	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr12:2161183-2162714	H1-neurons	neurons:	n/a	n/a
11	TEAD4	chr12:2161406-2161773	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:2161300..2162299-chr12:42631805..42632377,2	HCT-116	colon:

Variant related genes	Relation type
CACNA1C	TF binding region
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv521838	chr12:2060580-2299680	Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1035885	chr12:2077660-2310157	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv541350	chr12:2077660-2310157	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1038722	chr12:2085035-2308205	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv541351	chr12:2085035-2308205	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898601	chr12:2124955-2215448	Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv826182	chr12:2136395-2208074	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv826183	chr12:2147469-2257818	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv898602	chr12:2149786-2223740	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv3395240	chr12:2160891-2163339	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv18914	chr12:2160989-2164159	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv826184	chr12:2161268-2163795	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv1835101	chr12:2161561-2163307	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv557001	chr12:2161561-2164108	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv1823938	chr12:2161670-2163666	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv557002	chr12:2161670-2164001	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2160800-2164200	Active TSS	NHDF-Ad	bronchial
2	chr12:2160800-2166200	Active TSS	Brain Angular Gyrus	brain
3	chr12:2161000-2162400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr12:2161000-2163400	Active TSS	Ovary	ovary
5	chr12:2161000-2164200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:2161000-2165800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:2161000-2167000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr12:2161200-2161800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr12:2161200-2161800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:2161200-2161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:2161200-2161800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:2161200-2162200	Bivalent/Poised TSS	Thymus	Thymus
13	chr12:2161200-2162400	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
14	chr12:2161200-2163000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr12:2161200-2163200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:2161200-2163400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:2161200-2163600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:2161200-2163800	Active TSS	Right Atrium	heart
19	chr12:2161200-2164000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr12:2161200-2164000	Bivalent/Poised TSS	Psoas Muscle	Psoas
21	chr12:2161200-2164200	Active TSS	Brain Substantia Nigra	brain
22	chr12:2161200-2164400	Bivalent/Poised TSS	Colonic Mucosa	Colon
23	chr12:2161200-2165200	Active TSS	Aorta	Aorta
24	chr12:2161200-2165600	Active TSS	Brain Hippocampus Middle	brain
25	chr12:2161200-2165800	Active TSS	Right Ventricle	heart
26	chr12:2161400-2161800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
27	chr12:2161400-2161800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
28	chr12:2161400-2161800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
29	chr12:2161400-2162200	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:2161400-2162200	Enhancers	Liver	Liver
31	chr12:2161400-2162200	Active TSS	Pancreas	Pancrea
32	chr12:2161400-2162400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:2161400-2162400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:2161400-2162400	Bivalent/Poised TSS	HepG2	liver
35	chr12:2161400-2162400	Bivalent/Poised TSS	HSMM	muscle
36	chr12:2161400-2162800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:2161400-2162800	Bivalent/Poised TSS	Esophagus	oesophagus
38	chr12:2161400-2163000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:2161400-2163600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr12:2161400-2163600	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr12:2161400-2163600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:2161400-2163600	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:2161400-2164000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:2161400-2164200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr12:2161400-2164200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:2161400-2164200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
47	chr12:2161400-2164400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr12:2161400-2164800	Active TSS	Left Ventricle	heart
49	chr12:2161400-2165400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr12:2161400-2165400	Active TSS	NHLF	lung

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