Variant report

Variant	rs7838103
Chromosome Location	chr8:124352410-124352411
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:124352145-124352480	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:124352092-124352511	K562	blood:	n/a	n/a
3	POLR2A	chr8:124352121-124352477	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:124352006-124352470	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124347435..124348955-chr8:124350063..124352748,2	K562	blood:
2	chr8:124347435..124349910-chr8:124351248..124353916,2	K562	blood:

Variant related genes	Relation type
RNU6-875P	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10102371	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10105355	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216826	1.00[CHB][hapmap]
rs10956124	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11774610	1.00[ASN][1000 genomes]
rs11985341	1.00[CEU][hapmap]
rs11990795	0.81[MKK][hapmap]
rs16898127	1.00[CEU][hapmap]
rs16898165	1.00[CEU][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs16898247	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28693459	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2891717	0.93[ASW][hapmap];1.00[CHB][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3857956	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4871375	1.00[CHB][hapmap]
rs59697406	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521778	1.00[ASN][1000 genomes]
rs6470148	1.00[CHB][hapmap]
rs6989437	0.93[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.98[MKK][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes]
rs6996427	0.93[ASW][hapmap];1.00[CEU][hapmap];0.98[LWK][hapmap];0.91[MKK][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs6998407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000034	1.00[ASN][1000 genomes]
rs7000925	1.00[CEU][hapmap]
rs7005105	1.00[CHB][hapmap]
rs73337894	1.00[ASN][1000 genomes]
rs73341743	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703793	1.00[ASN][1000 genomes]
rs73703796	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73703800	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835285	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844363	1.00[ASN][1000 genomes]
rs900628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297669	1.00[CHB][hapmap]

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	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv891428	chr8:124347228-124386782	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124325000-124379400	Weak transcription	Right Ventricle	heart
2	chr8:124326400-124372600	Weak transcription	Gastric	stomach
3	chr8:124327600-124369200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:124328400-124386400	Weak transcription	Lung	lung
5	chr8:124328600-124357000	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:124329000-124372600	Weak transcription	Esophagus	oesophagus
7	chr8:124329000-124379600	Weak transcription	Pancreas	Pancrea
8	chr8:124329400-124362000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:124329400-124385000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:124329600-124384200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:124329800-124394200	Strong transcription	Dnd41	blood
12	chr8:124330000-124355000	Weak transcription	NHLF	lung
13	chr8:124330200-124386400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:124330400-124383200	Weak transcription	Colonic Mucosa	Colon
15	chr8:124330400-124393400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:124330400-124394600	Strong transcription	Fetal Thymus	thymus
17	chr8:124330600-124365400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:124330600-124393000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:124330800-124366200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:124330800-124366200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr8:124331000-124377600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124331200-124353200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:124331600-124383800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:124331800-124372200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:124332000-124361600	Strong transcription	HepG2	liver
26	chr8:124332600-124372200	Weak transcription	Brain Angular Gyrus	brain
27	chr8:124332600-124372600	Weak transcription	Spleen	Spleen
28	chr8:124333000-124387600	Weak transcription	Fetal Brain Male	brain
29	chr8:124333200-124371600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:124334400-124378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr8:124334800-124353800	Weak transcription	Ovary	ovary
32	chr8:124334800-124357200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:124334800-124360200	Strong transcription	K562	blood
34	chr8:124334800-124371400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr8:124335200-124398600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:124335400-124372200	Weak transcription	Brain Germinal Matrix	brain
37	chr8:124335600-124398600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:124336400-124384200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:124337200-124372400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr8:124337800-124360000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:124339600-124375000	Strong transcription	Hela-S3	cervix
42	chr8:124340400-124356800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:124340400-124361800	Strong transcription	Osteobl	bone
44	chr8:124341600-124356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr8:124341600-124406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr8:124342600-124360600	Weak transcription	Left Ventricle	heart
47	chr8:124342800-124356200	Strong transcription	A549	lung
48	chr8:124342800-124372000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:124342800-124373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:124342800-124388000	Strong transcription	Monocytes-CD14+_RO01746	blood

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