Variant report

Variant	rs11590325
Chromosome Location	chr1:154756425-154756426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154750500..154754364-chr1:154754876..154758244,3	K562	blood:
2	chr1:154756309..154759267-chr1:154770160..154772108,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10908440	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11584635	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12133662	0.87[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17719312	0.84[JPT][hapmap]
rs1891806	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs72700254	0.90[ASN][1000 genomes]
rs72700255	0.82[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154740800-154764000	Weak transcription	Right Ventricle	heart
2	chr1:154745000-154758200	Weak transcription	Colonic Mucosa	Colon
3	chr1:154746200-154759600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:154746600-154757400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154746600-154763800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:154747400-154757400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:154747800-154757000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:154748800-154760600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr1:154748800-154764000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:154749200-154757400	Weak transcription	Brain Anterior Caudate	brain
11	chr1:154749200-154759600	Weak transcription	Fetal Brain Female	brain
12	chr1:154750000-154763800	Weak transcription	HSMMtube	muscle
13	chr1:154750400-154757000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:154752000-154757000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:154752000-154757000	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:154752400-154757000	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:154752400-154757600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:154753800-154757200	Weak transcription	Fetal Stomach	stomach
19	chr1:154754000-154757600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr1:154754200-154756600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:154754200-154760800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:154755200-154760800	Enhancers	Thymus	Thymus
23	chr1:154755600-154756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr1:154755800-154756800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:154755800-154757000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr1:154755800-154759000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:154756000-154758800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr1:154756000-154759000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:154756000-154759400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:154756000-154767200	Enhancers	Fetal Thymus	thymus
31	chr1:154756200-154757200	Enhancers	Primary T cells from cord blood	blood
32	chr1:154756200-154757200	Enhancers	GM12878-XiMat	blood
33	chr1:154756200-154757600	Enhancers	Left Ventricle	heart
34	chr1:154756200-154757800	Enhancers	Spleen	Spleen
35	chr1:154756200-154758200	Enhancers	Liver	Liver
36	chr1:154756200-154758800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:154756400-154757600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:154756400-154758000	Enhancers	Primary neutrophils fromperipheralblood	blood

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