Variant report

Variant	rs60982916
Chromosome Location	chr2:99553588-99553589
allele	C/T
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	SIN3A	chr2:99553064-99553943	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:99553086-99554164	H1-hESC	embryonic stem cell:	n/a	chr2:99554105-99554119
3	POLR2A	chr2:99553499-99553883	H1-neurons	neurons:	n/a	n/a
4	ZNF143	chr2:99553501-99553683	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:99553458-99553788	H1-neurons	neurons:	n/a	n/a
6	HMGN3	chr2:99553502-99553704	K562	blood:	n/a	n/a

Variant related genes	Relation type
KIAA1211L	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12619096	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv874697	chr2:99520608-99558970	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	esv3339215	chr2:99550420-99554818	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	1 gene(s)	inside rSNPs	diseases
7	esv3412425	chr2:99551545-99553993	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99549400-99553800	Active TSS	Brain Anterior Caudate	brain
2	chr2:99550000-99553800	Active TSS	Brain Angular Gyrus	brain
3	chr2:99551200-99553800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:99551200-99554000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:99551400-99553800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
6	chr2:99551800-99553600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:99551800-99553600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:99551800-99553800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr2:99551800-99553800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:99551800-99554000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:99551800-99554000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr2:99552000-99553600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:99552000-99553600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:99552000-99553600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:99552000-99553600	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr2:99552000-99553600	Active TSS	Right Atrium	heart
17	chr2:99552000-99553800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:99552000-99553800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
19	chr2:99552000-99553800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:99552000-99553800	Active TSS	Gastric	stomach
21	chr2:99552200-99553600	Bivalent/Poised TSS	HSMM	muscle
22	chr2:99552200-99553800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr2:99552200-99553800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:99552200-99554000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr2:99552200-99554000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:99552200-99554000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr2:99552400-99553600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:99552400-99553800	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:99552400-99553800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
30	chr2:99552600-99553600	Enhancers	Liver	Liver
31	chr2:99552600-99553800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
32	chr2:99552800-99553600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:99552800-99553800	Bivalent Enhancer	Fetal Brain Male	brain
34	chr2:99552800-99553800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr2:99552800-99553800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
36	chr2:99552800-99554000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:99553000-99553600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:99553000-99553600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:99553000-99553600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr2:99553000-99553600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:99553000-99553600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr2:99553000-99553600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
43	chr2:99553000-99553600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr2:99553000-99553600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
45	chr2:99553000-99553600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
46	chr2:99553000-99553600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr2:99553000-99553600	Bivalent/Poised TSS	Thymus	Thymus
48	chr2:99553000-99553600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
49	chr2:99553000-99553800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:99553000-99553800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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