Variant report

Variant	rs6455925
Chromosome Location	chr6:164259080-164259081
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	BHLHE40	chr6:164258750-164259103	K562	blood:	n/a	n/a
2	KAP1	chr6:164258291-164259545	U2OS	brain:	n/a	n/a
3	MAX	chr6:164258669-164259150	K562	blood:	n/a	n/a
4	SETDB1	chr6:164258740-164259428	U2OS	brain:	n/a	n/a
5	CBX3	chr6:164258743-164259098	K562	blood:	n/a	n/a
6	TCF7L2	chr6:164258759-164259281	HEK293	kidney:	n/a	n/a
7	KAP1	chr6:164258279-164259493	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:164242074..164244714-chr6:164257736..164260576,2	K562	blood:

Variant related genes	Relation type
RN7SL366P	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16895430	0.85[AMR][1000 genomes]
rs16895435	0.85[AMR][1000 genomes]
rs16895437	0.82[AMR][1000 genomes]
rs16895447	0.82[AMR][1000 genomes]
rs16895449	0.82[AMR][1000 genomes]
rs56936161	0.85[AMR][1000 genomes]
rs61392766	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6904452	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6919585	0.88[EUR][1000 genomes]
rs6924091	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7752540	1.00[GIH][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7767096	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7768454	0.85[AMR][1000 genomes]

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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv1798922	chr6:164257563-164298780	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164256800-164260600	Enhancers	Fetal Heart	heart
2	chr6:164257800-164259200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:164257800-164259600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:164258200-164259200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr6:164258200-164259200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr6:164258200-164259400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:164258200-164259400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:164258200-164259400	Active TSS	Brain Anterior Caudate	brain
9	chr6:164258200-164259400	Active TSS	Brain Substantia Nigra	brain
10	chr6:164258400-164259200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:164258400-164259200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr6:164258400-164259400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:164258400-164259400	Enhancers	Fetal Kidney	kidney
14	chr6:164258400-164259600	Active TSS	Ovary	ovary
15	chr6:164258600-164259200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:164258600-164259200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:164258600-164259200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:164258600-164259200	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr6:164258600-164259200	Active TSS	Colonic Mucosa	Colon
20	chr6:164258600-164259200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr6:164258600-164259200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr6:164258600-164259200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:164258600-164259200	Flanking Active TSS	NH-A	brain
24	chr6:164258600-164259400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr6:164258800-164259200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr6:164258800-164259200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr6:164258800-164259200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr6:164258800-164259200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr6:164258800-164259200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:164258800-164259200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:164258800-164259200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr6:164258800-164259200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:164258800-164259200	Flanking Active TSS	Brain Angular Gyrus	brain
34	chr6:164258800-164259200	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr6:164258800-164259200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr6:164258800-164259200	Enhancers	Esophagus	oesophagus
37	chr6:164258800-164259200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr6:164258800-164259200	Flanking Active TSS	Fetal Lung	lung
39	chr6:164258800-164259200	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr6:164258800-164259200	Flanking Active TSS	Fetal Stomach	stomach
41	chr6:164258800-164259200	Enhancers	Gastric	stomach
42	chr6:164258800-164259200	Enhancers	Left Ventricle	heart
43	chr6:164258800-164259200	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr6:164258800-164259200	Flanking Active TSS	Right Atrium	heart
45	chr6:164258800-164259200	Flanking Active TSS	NHLF	lung
46	chr6:164258800-164259400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr6:164258800-164259400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr6:164258800-164259400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr6:164258800-164259400	Flanking Active TSS	Fetal Brain Female	brain
50	chr6:164259000-164259200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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