Variant report

Variant	rs12987928
Chromosome Location	chr2:182549260-182549261
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr2:182549150-182549275	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:182547954-182549399	H1-neurons	neurons:	n/a	n/a
3	REST	chr2:182549236-182550562	PFSK-1	brain:	n/a	chr2:182549831-182549840
4	SUZ12	chr2:182546965-182550375	H1-hESC	embryonic stem cell:	n/a	n/a
5	SUZ12	chr2:182543491-182550280	NT2-D1	testis:	n/a	n/a
6	CTBP2	chr2:182547074-182549554	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182544304..182548457-chr2:182549208..182552987,3	MCF-7	breast:
2	chr2:182546719..182548427-chr2:182548447..182551068,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA4-1	chr2:182546597-182554169	NONHSAT075881

No data

Variant related genes	Relation type
NEUROD1	TF binding region
CERKL	TF binding region
ENSG00000188452	Chromatin interaction
ENSG00000162992	Chromatin interaction
ENSG00000234595	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1123253	1.00[AMR][1000 genomes]
rs11884960	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
3	nsv834477	chr2:182438121-182593527	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182543600-182550200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:182545200-182549800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:182545200-182550000	Bivalent Enhancer	Fetal Thymus	thymus
4	chr2:182545200-182550200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:182545200-182550400	Bivalent Enhancer	Fetal Brain Male	brain
6	chr2:182545400-182549400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:182545800-182549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr2:182546000-182550200	Weak transcription	Gastric	stomach
9	chr2:182547000-182550200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:182547200-182549400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr2:182547400-182550200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr2:182547400-182550400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
13	chr2:182547400-182550400	Bivalent Enhancer	Placenta	Placenta
14	chr2:182547600-182549800	Bivalent Enhancer	Lung	lung
15	chr2:182547600-182550200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:182547800-182549400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:182547800-182549400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr2:182547800-182549600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:182547800-182549600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:182548000-182549400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr2:182548000-182549600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:182548000-182550200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr2:182548400-182549600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr2:182548400-182549800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:182548600-182549400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:182548600-182549400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:182548600-182549600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
28	chr2:182548600-182550000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
29	chr2:182548600-182550000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr2:182548600-182550200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:182548800-182549400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:182548800-182549600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
33	chr2:182548800-182550000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:182548800-182550000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:182548800-182550200	Enhancers	Pancreas	Pancrea
36	chr2:182549000-182549400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:182549000-182549600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr2:182549000-182549800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:182549000-182550000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:182549000-182550000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:182549000-182550400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
42	chr2:182549200-182549400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
43	chr2:182549200-182549400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
44	chr2:182549200-182549400	Bivalent Enhancer	Brain Substantia Nigra	brain
45	chr2:182549200-182549600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:182549200-182549600	Bivalent Enhancer	Colon Smooth Muscle	Colon
47	chr2:182549200-182549600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr2:182549200-182550000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:182549200-182550000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
50	chr2:182549200-182550000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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