Variant report

Variant	rs4845633
Chromosome Location	chr1:154459197-154459198
allele	C/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	POLR2A	chr1:154459132-154459225	GM12878	blood:	n/a	n/a
2	TCF7L2	chr1:154459078-154459284	PANC-1	pancreas:	n/a	chr1:154459210-154459224 chr1:154459211-154459221 chr1:154459209-154459225 chr1:154459214-154459221 chr1:154459213-154459222 chr1:154459212-154459221 chr1:154459209-154459225

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154457376..154460470-chr1:154460552..154464074,3	K562	blood:
2	chr1:154457376..154460470-chr1:154460552..154464074,4	K562	blood:

Variant related genes	Relation type
SHE	TF binding region
ENSG00000169291	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4523509	0.92[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7525993	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529744	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154427800-154464800	Weak transcription	Ovary	ovary
2	chr1:154438400-154463400	Weak transcription	Esophagus	oesophagus
3	chr1:154441600-154465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:154443000-154464400	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:154450000-154462400	Weak transcription	Colonic Mucosa	Colon
6	chr1:154451600-154465600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:154454000-154461800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:154455200-154461600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:154455600-154460200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:154456400-154460200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:154456600-154460200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:154457000-154459600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:154457000-154460000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:154457200-154459400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:154457600-154459200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:154457600-154459200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr1:154457600-154459200	Enhancers	Fetal Lung	lung
18	chr1:154457800-154459400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:154457800-154459400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:154457800-154460200	Genic enhancers	Adipose Nuclei	Adipose
21	chr1:154458000-154459200	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:154458000-154459400	Enhancers	Brain Germinal Matrix	brain
23	chr1:154458000-154459800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:154458000-154462000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:154458200-154459200	Enhancers	Brain Anterior Caudate	brain
26	chr1:154458200-154459200	Enhancers	Brain Hippocampus Middle	brain
27	chr1:154458200-154459200	Enhancers	Brain Substantia Nigra	brain
28	chr1:154458200-154459200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr1:154458200-154459400	Enhancers	Liver	Liver
30	chr1:154458200-154460200	Enhancers	Spleen	Spleen
31	chr1:154458200-154460200	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr1:154458400-154459200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:154458400-154459200	Enhancers	Fetal Muscle Leg	muscle
34	chr1:154458400-154459200	Genic enhancers	Fetal Stomach	stomach
35	chr1:154458400-154459200	Genic enhancers	Lung	lung
36	chr1:154458400-154459200	Enhancers	Right Atrium	heart
37	chr1:154458400-154459200	Genic enhancers	Right Ventricle	heart
38	chr1:154458400-154459200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:154458400-154459600	Genic enhancers	HUVEC	blood vessel
40	chr1:154458600-154459200	Strong transcription	Left Ventricle	heart
41	chr1:154458600-154460000	Weak transcription	Gastric	stomach
42	chr1:154458600-154462400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:154458600-154463000	Weak transcription	Psoas Muscle	Psoas
44	chr1:154458600-154469000	Weak transcription	Small Intestine	intestine
45	chr1:154458800-154462200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:154459000-154459200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:154459000-154459200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr1:154459000-154459200	Genic enhancers	Stomach Smooth Muscle	stomach
49	chr1:154459000-154459600	Weak transcription	Placenta	Placenta
50	chr1:154459000-154462000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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