Variant report

Variant	rs12649023
Chromosome Location	chr4:88259008-88259009
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88257214..88259344-chr4:88263879..88266042,3	K562	blood:
2	chr4:88257535..88259344-chr4:88263879..88265710,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10010424	0.96[ASN][1000 genomes]
rs13112695	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3923441	0.81[CHB][hapmap]
rs4345139	0.81[CHB][hapmap]
rs4352444	0.83[CHB][hapmap]
rs4422389	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6531975	0.87[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531977	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667870	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7667924	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7676865	0.94[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7688962	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7698974	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870296	chr4:88173534-88295927	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv4412	chr4:88237813-88283368	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88250600-88259400	Weak transcription	Fetal Heart	heart
2	chr4:88253800-88274600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:88254800-88260200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:88254800-88266000	Weak transcription	Brain Angular Gyrus	brain
5	chr4:88254800-88266000	Weak transcription	Fetal Kidney	kidney
6	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:88255000-88260200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:88255000-88260600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr4:88255000-88263000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:88255000-88263200	Weak transcription	HSMM	muscle
11	chr4:88255000-88266000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:88255000-88268200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:88255000-88292400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:88255200-88267800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr4:88255200-88274400	Weak transcription	GM12878-XiMat	blood
16	chr4:88255200-88285600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr4:88255200-88293800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr4:88255400-88259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:88255400-88261000	Strong transcription	Fetal Lung	lung
20	chr4:88255400-88263200	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr4:88255400-88264600	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr4:88255600-88266200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:88255800-88259200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr4:88255800-88266200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr4:88255800-88278200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:88256000-88259200	Weak transcription	Fetal Muscle Leg	muscle
27	chr4:88256000-88259400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr4:88256000-88260000	Weak transcription	K562	blood
29	chr4:88256000-88260200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:88256000-88260600	Weak transcription	Psoas Muscle	Psoas
31	chr4:88256000-88260600	Weak transcription	Thymus	Thymus
32	chr4:88256000-88262400	Weak transcription	Lung	lung
33	chr4:88256000-88262400	Weak transcription	Spleen	Spleen
34	chr4:88256000-88263000	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr4:88256000-88263000	Strong transcription	Placenta	Placenta
36	chr4:88256000-88265800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:88256000-88265800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:88256000-88266000	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:88256000-88266200	Weak transcription	Aorta	Aorta
40	chr4:88256000-88274800	Weak transcription	A549	lung
41	chr4:88256200-88259200	Weak transcription	Fetal Thymus	thymus
42	chr4:88256200-88260000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:88256200-88260600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:88256200-88262400	Weak transcription	Pancreas	Pancrea
45	chr4:88256200-88263000	Strong transcription	Liver	Liver
46	chr4:88256200-88265800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:88256200-88265800	Weak transcription	Brain Anterior Caudate	brain
48	chr4:88256200-88266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:88256200-88266800	Weak transcription	NHLF	lung
50	chr4:88256200-88267000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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