Variant report

Variant	rs12076892
Chromosome Location	chr1:151205221-151205222
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	1:151203965-151215310..1:151402394-151411623	GM12878	blood:
2	chr1:150485975..150488334-chr1:151205164..151207735,2	K562	blood:
3	1:151171193-151178589..1:151203965-151215310	GM12878	blood:
4	1:151203965-151215310..1:151592347-151603110	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000206635	Chromatin interaction
ENSG00000143398	Chromatin interaction
ENSG00000238711	Chromatin interaction
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1115	1.00[CHD][hapmap]
rs11204796	1.00[CHD][hapmap]
rs12087316	1.00[MEX][hapmap]
rs12138655	1.00[CHD][hapmap]
rs12745008	1.00[LWK][hapmap]
rs2233856	1.00[LWK][hapmap]
rs3811407	1.00[LWK][hapmap]
rs6666934	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151173200-151212000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:151173600-151210600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:151178200-151223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:151180800-151206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:151186800-151210000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:151189600-151223600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:151190000-151206600	Strong transcription	Fetal Intestine Small	intestine
9	chr1:151190400-151223200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:151190400-151223400	Strong transcription	Fetal Thymus	thymus
11	chr1:151191800-151223000	Strong transcription	Fetal Stomach	stomach
12	chr1:151193400-151223000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr1:151194400-151223600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr1:151194600-151208800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:151194800-151210000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:151195000-151209000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:151195000-151223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:151195200-151227200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:151195400-151209800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:151195600-151223000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:151195600-151223200	Strong transcription	Placenta	Placenta
22	chr1:151195800-151210000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:151196000-151223200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:151196200-151210200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:151196200-151222800	Strong transcription	Thymus	Thymus
26	chr1:151196200-151223200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:151196600-151222600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:151196600-151223200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:151196800-151222800	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:151197000-151222800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:151197000-151222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:151197000-151223000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:151197200-151223200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:151197400-151223200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:151197400-151223600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:151197600-151209400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:151199000-151210200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:151199200-151222600	Strong transcription	Dnd41	blood
39	chr1:151199200-151223000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:151199400-151208400	Strong transcription	A549	lung
41	chr1:151199400-151209800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr1:151199400-151209800	Strong transcription	Osteobl	bone
43	chr1:151199400-151222400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:151199400-151222600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:151199400-151222600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:151199400-151223000	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr1:151199400-151223200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:151199600-151210000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:151199600-151210000	Strong transcription	NH-A	brain
50	chr1:151199600-151213200	Strong transcription	Rectal Mucosa Donor 31	rectum

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