Variant report

Variant	rs12645103
Chromosome Location	chr4:7822740-7822741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7822325..7824045-chr4:7827904..7830215,2	K562	blood:
2	chr4:7821478..7824762-chr4:7830984..7832919,3	K562	blood:
3	chr4:7822325..7825462-chr4:7828397..7830973,3	K562	blood:
4	chr4:7818745..7823196-chr4:7823235..7826855,4	K562	blood:

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

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

rs_ID	r²[population]
rs13103193	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13121514	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28684644	0.81[EUR][1000 genomes]
rs28760598	0.84[EUR][1000 genomes]
rs35672467	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35726835	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36020433	0.86[AMR][1000 genomes];0.99[EUR][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	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	8 gene(s)	inside rSNPs	diseases
5	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7770800-7828400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7787000-7829400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:7791000-7829400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:7800600-7828800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:7804000-7829200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:7806400-7824600	Weak transcription	Fetal Thymus	thymus
7	chr4:7808000-7823000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:7808600-7830000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:7809600-7823000	Weak transcription	Brain Angular Gyrus	brain
10	chr4:7809600-7828000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7809800-7823400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:7809800-7823400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr4:7810000-7823400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:7813400-7825200	Weak transcription	Right Ventricle	heart
15	chr4:7813400-7829800	Weak transcription	Spleen	Spleen
16	chr4:7814200-7823000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr4:7814400-7823800	Weak transcription	Stomach Mucosa	stomach
18	chr4:7814400-7826600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:7814600-7824800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:7814800-7829800	Genic enhancers	Osteobl	bone
21	chr4:7816400-7823000	Strong transcription	HSMM	muscle
22	chr4:7816600-7824800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:7817000-7823800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:7817600-7823200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr4:7817800-7823400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr4:7818000-7830000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:7818200-7829400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:7818400-7823600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr4:7818800-7823000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:7818800-7823400	Weak transcription	Psoas Muscle	Psoas
31	chr4:7818800-7825200	Weak transcription	Gastric	stomach
32	chr4:7818800-7828200	Weak transcription	Hela-S3	cervix
33	chr4:7819200-7823400	Weak transcription	Fetal Kidney	kidney
34	chr4:7819600-7823200	Genic enhancers	Fetal Muscle Leg	muscle
35	chr4:7819600-7824000	Genic enhancers	Fetal Stomach	stomach
36	chr4:7819600-7826600	Enhancers	Fetal Heart	heart
37	chr4:7819800-7823200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:7819800-7823200	Genic enhancers	Fetal Muscle Trunk	muscle
39	chr4:7819800-7823400	Enhancers	Ovary	ovary
40	chr4:7819800-7823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:7819800-7825000	Genic enhancers	Fetal Intestine Small	intestine
42	chr4:7819800-7834400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:7820000-7823200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr4:7820000-7823400	Genic enhancers	Rectal Mucosa Donor 31	rectum
45	chr4:7820000-7824200	Genic enhancers	A549	lung
46	chr4:7820400-7823000	Weak transcription	Brain Hippocampus Middle	brain
47	chr4:7820400-7823000	Weak transcription	Left Ventricle	heart
48	chr4:7820400-7824000	Weak transcription	Fetal Brain Female	brain
49	chr4:7820800-7824600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:7820800-7828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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