Variant report

Variant	rs7230523
Chromosome Location	chr18:6775027-6775028
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	chr18:6774418..6777121-chr18:6778867..6780736,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16950575	1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61056900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7232130	1.00[MEX][hapmap]
rs7242399	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73938289	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73938293	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73938294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73938295	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73941109	1.00[EUR][1000 genomes]
rs73941110	1.00[EUR][1000 genomes]
rs8088112	1.00[AMR][1000 genomes];1.00[EUR][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:39 , 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	chr18:6771200-6776200	Weak transcription	Ovary	ovary
3	chr18:6773400-6776400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr18:6773400-6776600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr18:6773400-6776800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:6773400-6776800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr18:6773400-6778400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:6773600-6775200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr18:6773800-6776000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr18:6773800-6776000	Active TSS	Right Atrium	heart
11	chr18:6774000-6775400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr18:6774000-6775400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr18:6774000-6775400	Active TSS	Fetal Muscle Leg	muscle
14	chr18:6774000-6775600	Active TSS	Placenta	Placenta
15	chr18:6774000-6775800	Active TSS	Fetal Stomach	stomach
16	chr18:6774000-6776000	Active TSS	Adipose Nuclei	Adipose
17	chr18:6774000-6778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:6774000-6781200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:6774000-6781400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:6774200-6775400	Active TSS	Fetal Muscle Trunk	muscle
21	chr18:6774200-6775600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr18:6774200-6781200	Weak transcription	HSMMtube	muscle
23	chr18:6774400-6776400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr18:6774600-6776000	Active TSS	Fetal Kidney	kidney
25	chr18:6774800-6775600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr18:6774800-6775800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr18:6774800-6775800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:6774800-6776600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr18:6774800-6776600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr18:6774800-6781200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr18:6775000-6775200	Enhancers	Fetal Brain Female	brain
32	chr18:6775000-6775200	Flanking Active TSS	Fetal Lung	lung
33	chr18:6775000-6775400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr18:6775000-6776200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:6775000-6776200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:6775000-6778000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr18:6775000-6781000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr18:6775000-6781200	Weak transcription	Left Ventricle	heart
39	chr18:6775000-6781400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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