Variant report

Variant	rs1545364
Chromosome Location	chr2:178462882-178462883
allele	A/C
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	CEBPD	chr2:178462697-178462950	K562	blood:	n/a	n/a
2	EP300	chr2:178462710-178462937	K562	blood:	n/a	n/a
3	RCOR1	chr2:178462692-178462886	K562	blood:	n/a	n/a
4	KAP1	chr2:178462465-178463268	U2OS	brain:	n/a	n/a
5	TAL1	chr2:178462568-178463045	K562	blood:	n/a	chr2:178462849-178462867
6	TEAD4	chr2:178462561-178463044	K562	blood:	n/a	n/a
7	GATA2	chr2:178462456-178462943	SH-SY5Y	brain:	n/a	n/a
8	JUND	chr2:178462639-178462907	K562	blood:	n/a	n/a
9	TCF7L2	chr2:178462355-178462921	HEK293	kidney:	n/a	n/a
10	KAP1	chr2:178462411-178463240	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178157367..178160331-chr2:178462201..178464418,2	K562	blood:
2	chr2:178460962..178464308-chr2:178467800..178472816,6	K562	blood:

Variant related genes	Relation type
ENSG00000237655	TF binding region
ENSG00000237655	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10497500	0.83[ASN][1000 genomes]
rs10497501	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930798	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930799	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10930800	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10930801	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11684320	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11689550	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12463893	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12471741	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12612857	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12622298	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12991272	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13013752	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13027299	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13420302	0.82[ASN][1000 genomes]
rs13432183	0.81[ASN][1000 genomes]
rs1348850	0.81[EUR][1000 genomes]
rs1405713	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865433	0.81[ASN][1000 genomes]
rs1975543	0.84[EUR][1000 genomes]
rs2166554	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3927978	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4243390	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4528793	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893962	0.83[EUR][1000 genomes]
rs4893965	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4893966	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6761593	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7559521	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2762964	chr2:178416394-178481818	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3506731	chr2:178416851-178482200	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3506732	chr2:178416851-178482200	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3520312	chr2:178417102-178482200	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv3520313	chr2:178417102-178482200	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv583688	chr2:178427640-178540293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1545364	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178458600-178467800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:178460800-178463800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:178461400-178463000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:178461400-178463000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:178461400-178466000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:178461600-178463200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:178461600-178463200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:178461800-178463000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:178461800-178464400	Enhancers	Fetal Kidney	kidney
10	chr2:178462000-178463400	Enhancers	HepG2	liver
11	chr2:178462000-178463800	Enhancers	Fetal Brain Male	brain
12	chr2:178462000-178464800	Enhancers	Fetal Stomach	stomach
13	chr2:178462000-178468600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:178462400-178463000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:178462400-178463200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr2:178462400-178463200	Enhancers	K562	blood
17	chr2:178462400-178464600	Enhancers	Fetal Muscle Leg	muscle
18	chr2:178462400-178465000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:178462400-178467600	Weak transcription	Liver	Liver
20	chr2:178462600-178463000	Enhancers	Brain Hippocampus Middle	brain
21	chr2:178462600-178463200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:178462600-178463200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:178462600-178463200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr2:178462600-178463200	Enhancers	Fetal Heart	heart
25	chr2:178462600-178463200	Flanking Active TSS	Ovary	ovary
26	chr2:178462600-178463200	Bivalent Enhancer	Osteobl	bone
27	chr2:178462600-178463400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:178462600-178463400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:178462600-178463800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:178462600-178463800	Bivalent Enhancer	NHDF-Ad	bronchial
31	chr2:178462600-178464000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:178462600-178464000	Enhancers	Fetal Lung	lung
33	chr2:178462600-178464200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:178462600-178464200	Enhancers	Fetal Intestine Large	intestine
35	chr2:178462600-178464200	Enhancers	Psoas Muscle	Psoas
36	chr2:178462600-178464400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:178462600-178464400	Enhancers	Fetal Intestine Small	intestine
38	chr2:178462600-178464400	Enhancers	Fetal Thymus	thymus
39	chr2:178462600-178464400	Enhancers	Left Ventricle	heart
40	chr2:178462600-178464400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr2:178462600-178464600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:178462600-178464600	Enhancers	Brain Cingulate Gyrus	brain
43	chr2:178462600-178464600	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:178462600-178464600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr2:178462600-178464600	Enhancers	Spleen	Spleen
46	chr2:178462600-178464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:178462800-178463000	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:178462800-178463000	Bivalent Enhancer	NH-A	brain
49	chr2:178462800-178463200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:178462800-178463200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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