Variant report

Variant	rs4256429
Chromosome Location	chr6:24126276-24126277
allele	A/T
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	REST	chr6:24126156-24127668	ECC-1	luminal epithelium:	n/a	chr6:24127185-24127205 chr6:24127192-24127205 chr6:24127185-24127205 chr6:24127185-24127205 chr6:24127191-24127200 chr6:24126250-24126263 chr6:24127186-24127204 chr6:24127185-24127199
2	REST	chr6:24126153-24126614	HepG2	liver:	n/a	chr6:24126250-24126263
3	REST	chr6:24126192-24126611	HepG2	liver:	n/a	chr6:24126250-24126263
4	CTCF	chr6:24126160-24126310	HepG2	liver:	n/a	n/a
5	POLR2A	chr6:24126252-24126732	H1-neurons	neurons:	n/a	n/a
6	REST	chr6:24126268-24127656	HepG2	liver:	n/a	chr6:24127185-24127205 chr6:24127192-24127205 chr6:24127185-24127205 chr6:24127185-24127205 chr6:24127191-24127200 chr6:24127186-24127204 chr6:24127185-24127199
7	SIN3A	chr6:24126160-24126721	H1-hESC	embryonic stem cell:	n/a	n/a
8	REST	chr6:24126113-24127560	PFSK-1	brain:	n/a	chr6:24127185-24127205 chr6:24127192-24127205 chr6:24127185-24127205 chr6:24127185-24127205 chr6:24127191-24127200 chr6:24126250-24126263 chr6:24127186-24127204 chr6:24127185-24127199
9	REST	chr6:24126032-24127630	H1-neurons	neurons:	n/a	chr6:24127185-24127205 chr6:24127192-24127205 chr6:24127185-24127205 chr6:24127185-24127205 chr6:24127191-24127200 chr6:24126250-24126263 chr6:24127186-24127204 chr6:24127185-24127199
10	REST	chr6:24126123-24127712	PFSK-1	brain:	n/a	chr6:24127185-24127205 chr6:24127192-24127205 chr6:24127185-24127205 chr6:24127185-24127205 chr6:24127191-24127200 chr6:24126250-24126263 chr6:24127186-24127204 chr6:24127185-24127199
11	CHD2	chr6:24126159-24126309	HepG2	liver:	n/a	n/a
12	POLR2A	chr6:24126205-24126808	H1-neurons	neurons:	n/a	n/a
13	MXI1	chr6:24125859-24127958	SK-N-SH	brain:	n/a	n/a
14	EP300	chr6:24125655-24128041	SK-N-SH	brain:	n/a	chr6:24127280-24127294 chr6:24127113-24127123

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24108450..24111136-chr6:24124109..24126297,2	K562	blood:
2	chr6:24119759..24121969-chr6:24123709..24126349,2	K562	blood:

Variant related genes	Relation type
NRSN1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1277146	0.85[AMR][1000 genomes]
rs1277149	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1402404	0.86[ASN][1000 genomes]
rs1936390	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2176932	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2799376	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4236029	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4424073	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4455659	0.86[ASN][1000 genomes]
rs4479919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73389784	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029930	chr6:23481989-24289948	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24125800-24126400	Enhancers	H9 Cell Line	embryonic stem cell
2	chr6:24125800-24126400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:24125800-24126400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:24125800-24126800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr6:24125800-24127800	Active TSS	Brain Angular Gyrus	brain
6	chr6:24126000-24126400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:24126000-24126400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:24126000-24126400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr6:24126000-24126400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:24126000-24126400	Enhancers	Brain Substantia Nigra	brain
11	chr6:24126000-24126400	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr6:24126000-24126400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr6:24126000-24126800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:24126000-24127000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr6:24126000-24127200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:24126000-24127200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:24126000-24127200	Active TSS	Brain Cingulate Gyrus	brain
18	chr6:24126000-24127600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:24126000-24127600	Active TSS	Brain Anterior Caudate	brain
20	chr6:24126000-24127800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr6:24126200-24126400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:24126200-24126400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:24126200-24126400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr6:24126200-24126400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr6:24126200-24126400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr6:24126200-24126400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr6:24126200-24126400	Bivalent Enhancer	Psoas Muscle	Psoas
28	chr6:24126200-24126400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
29	chr6:24126200-24126400	Bivalent Enhancer	Thymus	Thymus
30	chr6:24126200-24126600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr6:24126200-24126600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr6:24126200-24126600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:24126200-24126600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:24126200-24126600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:24126200-24126600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:24126200-24126600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:24126200-24126600	Enhancers	Adipose Nuclei	Adipose
38	chr6:24126200-24126600	Active TSS	Brain Germinal Matrix	brain
39	chr6:24126200-24126600	Enhancers	Colonic Mucosa	Colon
40	chr6:24126200-24126600	Enhancers	Esophagus	oesophagus
41	chr6:24126200-24126600	Active TSS	Fetal Brain Male	brain
42	chr6:24126200-24126600	Enhancers	Gastric	stomach
43	chr6:24126200-24126600	Bivalent Enhancer	Left Ventricle	heart
44	chr6:24126200-24126600	Bivalent Enhancer	Lung	lung
45	chr6:24126200-24126600	Enhancers	Ovary	ovary
46	chr6:24126200-24126600	Enhancers	Pancreas	Pancrea
47	chr6:24126200-24126600	Flanking Bivalent TSS/Enh	Right Atrium	heart
48	chr6:24126200-24126600	Active TSS	HepG2	liver
49	chr6:24126200-24126800	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr6:24126200-24126800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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