Variant report

Variant	rs9947100
Chromosome Location	chr18:6780463-6780464
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	chr18:6774418..6777121-chr18:6778867..6780736,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12605379	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58260708	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58861953	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6506440	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73382734	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73941107	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8084111	0.83[ASN][1000 genomes]
rs9950848	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9965344	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059678	chr18:6155114-6838290	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv916883	chr18:6299209-7244642	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1055148	chr18:6527292-6790869	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv543629	chr18:6527292-6790869	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3529901	chr18:6537233-6851509	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3529902	chr18:6537233-6851509	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1063762	chr18:6542534-7382339	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv543630	chr18:6542534-7382339	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv1060757	chr18:6682974-7051982	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv543631	chr18:6682974-7051982	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1064175	chr18:6740267-7384528	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	esv34611	chr18:6741970-6838290	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv576397	chr18:6758921-7036683	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
14	esv2758469	chr18:6762909-6943645	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
15	esv2758711	chr18:6762909-6943645	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:6758600-6781200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:6774000-6781200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:6774000-6781400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:6774200-6781200	Weak transcription	HSMMtube	muscle
5	chr18:6774800-6781200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:6775000-6781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:6775000-6781200	Weak transcription	Left Ventricle	heart
8	chr18:6775000-6781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr18:6775400-6781000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr18:6775400-6781200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr18:6776000-6781200	Weak transcription	Right Atrium	heart
12	chr18:6776200-6781600	Genic enhancers	Fetal Lung	lung
13	chr18:6776400-6781000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr18:6776400-6781000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr18:6776400-6781200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr18:6776600-6781200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr18:6776600-6781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr18:6776600-6781200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr18:6776600-6781400	Weak transcription	Colon Smooth Muscle	Colon
20	chr18:6776800-6781000	Weak transcription	NHDF-Ad	bronchial
21	chr18:6776800-6781200	Weak transcription	Adipose Nuclei	Adipose
22	chr18:6776800-6781400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr18:6776800-6781400	Weak transcription	NHLF	lung
24	chr18:6777000-6781000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:6777000-6781000	Weak transcription	Fetal Stomach	stomach
26	chr18:6777600-6781000	Weak transcription	Ovary	ovary
27	chr18:6777600-6781200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:6777600-6781200	Weak transcription	Lung	lung
29	chr18:6777800-6781000	Weak transcription	Placenta	Placenta
30	chr18:6778200-6785600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr18:6779000-6781000	Weak transcription	HSMM	muscle
32	chr18:6779200-6781000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:6779200-6781000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr18:6779200-6781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:6779200-6781000	Weak transcription	Fetal Kidney	kidney
36	chr18:6779400-6781000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr18:6779400-6781000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr18:6779400-6781000	Weak transcription	HUVEC	blood vessel
39	chr18:6779400-6781200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr18:6779600-6785800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr18:6780000-6782600	Enhancers	Fetal Muscle Leg	muscle
42	chr18:6780000-6782800	Enhancers	Fetal Muscle Trunk	muscle
43	chr18:6780200-6780800	Weak transcription	Psoas Muscle	Psoas
44	chr18:6780200-6781000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:6780200-6783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:6780400-6780800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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