Variant report

Variant	rs2981414
Chromosome Location	chr1:154731148-154731149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154729822..154732595-chr1:154736390..154738634,2	K562	blood:
2	chr1:154730023..154732605-chr1:154848497..154850117,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6682291	0.87[AFR][1000 genomes]

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	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154717000-154732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:154720600-154731600	Weak transcription	Spleen	Spleen
3	chr1:154724200-154731400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:154724200-154731600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:154724200-154732800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:154724400-154732800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:154724600-154732800	Weak transcription	Fetal Brain Female	brain
8	chr1:154724800-154732800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:154724800-154732800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:154724800-154733000	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:154725400-154731600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:154727400-154731800	Weak transcription	GM12878-XiMat	blood
13	chr1:154727800-154732600	Enhancers	Primary T cells from cord blood	blood
14	chr1:154727800-154733000	Weak transcription	Psoas Muscle	Psoas
15	chr1:154728000-154732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:154728400-154731600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr1:154728800-154732000	Enhancers	Fetal Thymus	thymus
18	chr1:154729000-154731600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:154729200-154732800	Weak transcription	Right Ventricle	heart
20	chr1:154729400-154731600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:154729600-154731600	Weak transcription	Lung	lung
22	chr1:154730000-154732800	Weak transcription	Right Atrium	heart
23	chr1:154730000-154733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:154730400-154731200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:154730800-154731200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:154730800-154731600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:154730800-154732800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr1:154730800-154732800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr1:154731000-154731200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:154731000-154731400	Enhancers	Esophagus	oesophagus
31	chr1:154731000-154732800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:154731000-154732800	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:154731000-154732800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:154731000-154733000	Enhancers	Left Ventricle	heart

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