Variant report

Variant	rs12744544
Chromosome Location	chr1:154760176-154760177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154749107..154752078-chr1:154759443..154761879,2	K562	blood:
2	chr1:154759542..154761581-chr1:154772546..154775342,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12135902	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12726787	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728678	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs35657705	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4845672	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6426934	0.83[ASN][1000 genomes]
rs6691316	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs883319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv872452	chr1:154750989-154769561	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
2	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
3	chr1:154748800-154760600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:154748800-154764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:154750000-154763800	Weak transcription	HSMMtube	muscle
6	chr1:154754200-154760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:154755200-154760800	Enhancers	Thymus	Thymus
8	chr1:154756000-154767200	Enhancers	Fetal Thymus	thymus
9	chr1:154757600-154763800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:154757800-154760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:154757800-154760600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:154757800-154761000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:154758000-154760200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:154758000-154760400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:154758000-154763200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:154758000-154763200	Weak transcription	Dnd41	blood
17	chr1:154758000-154763800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:154758200-154761000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:154758200-154763200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:154758200-154763200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr1:154758400-154762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:154758400-154762800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:154758400-154763400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:154758400-154763800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:154758600-154760200	Enhancers	GM12878-XiMat	blood
26	chr1:154758600-154763000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:154758600-154763000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:154758600-154763800	Weak transcription	Fetal Muscle Leg	muscle
29	chr1:154758800-154762800	Weak transcription	Primary T cells from cord blood	blood
30	chr1:154758800-154762800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr1:154758800-154762800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:154758800-154763000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:154758800-154763800	Weak transcription	Right Atrium	heart
34	chr1:154759400-154760600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:154759400-154761200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:154759400-154762600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:154759600-154760600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr1:154759600-154761000	Enhancers	Fetal Brain Female	brain
39	chr1:154759600-154761400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:154759600-154762600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:154759800-154760200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:154759800-154760400	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:154759800-154761200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr1:154759800-154761400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:154759800-154761800	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:154759800-154762800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:154760000-154760400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:154760000-154760600	Enhancers	Brain Substantia Nigra	brain
49	chr1:154760000-154763000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:154760000-154764000	Weak transcription	Spleen	Spleen

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