Variant report

Variant	rs3751149
Chromosome Location	chr12:121453962-121453963
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121445828..121450860-chr12:121451549..121454387,9	K562	blood:
2	chr12:121452592..121454438-chr12:121647839..121649379,2	MCF-7	breast:
3	chr12:121445828..121451054-chr12:121451445..121454709,11	K562	blood:
4	chr12:121442812..121445650-chr12:121451524..121454471,3	K562	blood:
5	chr12:121447431..121451051-chr12:121452490..121455717,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction
ENSG00000157895	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2708081	0.89[CHB][hapmap];0.95[CHD][hapmap];0.83[ASN][1000 genomes]
rs3213547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34119995	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3751152	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];1.00[ASN][1000 genomes]
rs3751153	0.97[ASN][1000 genomes]
rs3751156	0.93[ASN][1000 genomes]
rs3999410	1.00[ASN][1000 genomes]
rs56087915	0.83[ASN][1000 genomes]
rs56245324	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56256645	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56922026	0.97[ASN][1000 genomes]
rs68088379	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300883	0.97[ASN][1000 genomes]
rs73214144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73214160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121452600-121454000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:121452800-121454200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:121452800-121454400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr12:121452800-121454400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr12:121452800-121454400	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr12:121452800-121454400	Active TSS	HSMM	muscle
7	chr12:121452800-121454400	Active TSS	NH-A	brain
8	chr12:121453000-121454000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr12:121453000-121454000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
10	chr12:121453000-121454400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:121453000-121454400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:121453000-121454400	Active TSS	NHLF	lung
13	chr12:121453200-121454200	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr12:121453200-121454400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr12:121453200-121454400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr12:121453200-121454400	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr12:121453200-121454400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:121453200-121454400	Active TSS	Fetal Intestine Large	intestine
19	chr12:121453200-121454400	Active TSS	K562	blood
20	chr12:121453400-121454000	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr12:121453400-121454000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr12:121453400-121454000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr12:121453400-121454000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:121453400-121454000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr12:121453400-121454000	Flanking Active TSS	Liver	Liver
26	chr12:121453400-121454000	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr12:121453400-121454000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr12:121453400-121454200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr12:121453400-121454200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr12:121453400-121454400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:121453400-121454400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr12:121453400-121454400	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr12:121453400-121454400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr12:121453400-121454400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:121453400-121454400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:121453400-121454400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:121453400-121454400	Active TSS	Fetal Muscle Leg	muscle
38	chr12:121453400-121454400	Active TSS	HMEC	breast
39	chr12:121453400-121454400	Active TSS	HSMMtube	muscle
40	chr12:121453400-121454600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:121453400-121454600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:121453400-121454600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:121453400-121454600	Active TSS	Colonic Mucosa	Colon
44	chr12:121453400-121454600	Active TSS	A549	lung
45	chr12:121453400-121454600	Active TSS	NHDF-Ad	bronchial
46	chr12:121453600-121454000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:121453600-121454000	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr12:121453600-121454000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:121453600-121454000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr12:121453600-121454000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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