Variant report

Variant	rs10781342
Chromosome Location	chr9:78778550-78778551
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	chr9:78772507..78774901-chr9:78778089..78780004,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10869713	0.84[ASN][1000 genomes]
rs10869715	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13289256	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1411956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1888705	0.85[ASN][1000 genomes]
rs7036047	0.84[AMR][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	nsv831627	chr9:78651134-78817669	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv893474	chr9:78753324-78784325	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv893475	chr9:78753324-78817288	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv893476	chr9:78768830-78887992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv466422	chr9:78775570-78796522	Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv614691	chr9:78775570-78796522	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:78762800-78780200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr9:78766400-78790000	Weak transcription	Spleen	Spleen
3	chr9:78766600-78785200	Weak transcription	Fetal Kidney	kidney
4	chr9:78770400-78781600	Weak transcription	Brain Substantia Nigra	brain
5	chr9:78770600-78790000	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:78771000-78790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr9:78771600-78790000	Strong transcription	Duodenum Mucosa	Duodenum
8	chr9:78771800-78779600	Strong transcription	Thymus	Thymus
9	chr9:78771800-78779800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:78772200-78780000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr9:78772200-78790000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr9:78772600-78778600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:78772600-78779400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr9:78772600-78790000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr9:78773000-78790000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:78773000-78790000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr9:78773400-78778800	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:78773400-78779800	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:78774200-78782800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:78774200-78785200	Weak transcription	Brain Anterior Caudate	brain
21	chr9:78774400-78778600	Enhancers	Fetal Muscle Leg	muscle
22	chr9:78774400-78784800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:78774400-78790000	Weak transcription	Fetal Brain Male	brain
24	chr9:78774600-78790000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr9:78775200-78785400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:78775200-78790000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr9:78775400-78780600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:78775400-78789800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr9:78775400-78790000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr9:78775600-78778600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr9:78775800-78778600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:78775800-78778600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:78776000-78778600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr9:78776000-78778800	Enhancers	HSMM	muscle
35	chr9:78776200-78778600	Enhancers	Ovary	ovary
36	chr9:78776600-78785200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr9:78776600-78790000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr9:78776800-78785800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr9:78777000-78778600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:78777000-78778800	Enhancers	HSMMtube	muscle
41	chr9:78777000-78780400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:78777000-78790000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr9:78777200-78778800	Enhancers	Fetal Heart	heart
44	chr9:78777400-78779200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:78777400-78783600	Weak transcription	Left Ventricle	heart
46	chr9:78777400-78784200	Weak transcription	Aorta	Aorta
47	chr9:78777400-78784800	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:78777400-78785200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr9:78777400-78785400	Weak transcription	Right Ventricle	heart
50	chr9:78777400-78787000	Strong transcription	Fetal Intestine Large	intestine

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