Variant report

Variant	rs4838524
Chromosome Location	chr10:50710123-50710124
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	chr10:50708831..50710894-chr10:50713188..50715760,2	K562	blood:

Variant related genes	Relation type
ENSG00000225830	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1018603	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10745261	1.00[ASN][1000 genomes]
rs10776572	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776573	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10776577	1.00[ASN][1000 genomes]
rs10857502	1.00[ASN][1000 genomes]
rs11101147	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1475255	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1917800	1.00[CHB][hapmap];0.85[MEX][hapmap];1.00[ASN][1000 genomes]
rs1924490	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924492	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103201	1.00[ASN][1000 genomes]
rs2104346	1.00[ASN][1000 genomes]
rs3750746	0.81[LWK][hapmap]
rs4253026	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4253073	1.00[ASN][1000 genomes]
rs4253077	1.00[ASN][1000 genomes]
rs4253087	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253120	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253132	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4253162	1.00[ASN][1000 genomes]
rs4253164	1.00[ASN][1000 genomes]
rs4253179	1.00[ASN][1000 genomes]
rs4838523	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838530	1.00[ASN][1000 genomes]
rs57509152	1.00[ASN][1000 genomes]
rs6537536	1.00[ASN][1000 genomes]
rs6537538	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7076173	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7080017	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7091005	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs72792895	1.00[ASN][1000 genomes]
rs72793798	1.00[ASN][1000 genomes]
rs7902661	1.00[ASN][1000 genomes]
rs7903788	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7903930	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7916873	1.00[ASN][1000 genomes]
rs7923762	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912470	1.00[ASN][1000 genomes]
rs958967	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:50685000-50723400	Weak transcription	NHLF	lung
3	chr10:50686400-50710600	Weak transcription	Psoas Muscle	Psoas
4	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr10:50686400-50716600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:50686600-50715600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr10:50686600-50716000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr10:50686600-50716200	Weak transcription	GM12878-XiMat	blood
9	chr10:50686600-50716800	Weak transcription	Brain Anterior Caudate	brain
10	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
12	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr10:50688200-50717000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr10:50689200-50716200	Weak transcription	Brain Substantia Nigra	brain
15	chr10:50690200-50718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
18	chr10:50690400-50710400	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:50690400-50715800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr10:50690400-50716400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
22	chr10:50690600-50715800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr10:50690600-50716000	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
25	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
26	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:50691000-50724400	Weak transcription	Lung	lung
28	chr10:50691000-50728200	Weak transcription	Gastric	stomach
29	chr10:50691200-50713000	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr10:50691600-50715000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr10:50691600-50715600	Weak transcription	Dnd41	blood
32	chr10:50691600-50716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr10:50691600-50716000	Weak transcription	Brain Hippocampus Middle	brain
34	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
35	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
36	chr10:50693400-50715600	Weak transcription	Fetal Stomach	stomach
37	chr10:50693400-50718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:50693400-50719400	Weak transcription	Fetal Intestine Small	intestine
39	chr10:50694400-50716000	Weak transcription	Brain Angular Gyrus	brain
40	chr10:50694800-50716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
42	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
44	chr10:50696600-50713000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:50696600-50715600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr10:50696800-50713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:50699000-50710200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr10:50699400-50713200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:50700200-50710600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr10:50701400-50712600	Weak transcription	Rectal Mucosa Donor 29	rectum

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