Variant report

Variant	rs12502603
Chromosome Location	chr4:16261094-16261095
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	CEBPB	chr4:16261024-16261244	HepG2	liver:	n/a	chr4:16261064-16261075 chr4:16261063-16261074 chr4:16261063-16261076
2	CEBPB	chr4:16260962-16261204	IMR90	lung:	n/a	chr4:16261064-16261075 chr4:16261063-16261074 chr4:16261063-16261076
3	SPI1	chr4:16261062-16261621	HL-60	blood:	n/a	n/a
4	GATA1	chr4:16261070-16261977	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16253246..16254750-chr4:16258404..16261175,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CD38-6	chr4:16260791-16262074	NONHSAT095681

Variant related genes	Relation type
RPS21P4	TF binding region

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10025014	0.82[ASN][1000 genomes]
rs10027456	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10212713	0.82[ASN][1000 genomes]
rs12502431	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203438	0.82[ASN][1000 genomes]
rs2109889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34159213	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73802022	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic 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 lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537048	chr4:16226406-16375787	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16234200-16264800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:16234400-16261600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr4:16235400-16272800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:16235600-16261600	Weak transcription	Fetal Kidney	kidney
5	chr4:16238200-16266000	Weak transcription	Fetal Brain Male	brain
6	chr4:16240400-16263400	Weak transcription	Fetal Thymus	thymus
7	chr4:16242200-16267800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:16244000-16265000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:16245000-16261200	Weak transcription	Spleen	Spleen
10	chr4:16245600-16266000	Weak transcription	Brain Angular Gyrus	brain
11	chr4:16246000-16261400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:16249600-16261200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:16251800-16264400	Weak transcription	Fetal Brain Female	brain
14	chr4:16252800-16266600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:16252800-16267400	Weak transcription	Pancreas	Pancrea
16	chr4:16254800-16268800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:16256200-16261200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr4:16256200-16261600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:16256200-16270800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:16256400-16261400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:16256400-16266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:16256400-16270600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:16258200-16278600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:16258400-16261400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:16258400-16263400	Weak transcription	Ovary	ovary
26	chr4:16258400-16267400	Weak transcription	Gastric	stomach
27	chr4:16258400-16268000	Weak transcription	Esophagus	oesophagus
28	chr4:16258400-16268000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr4:16258400-16270600	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:16258400-16271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr4:16258600-16263000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:16258600-16264400	Weak transcription	Left Ventricle	heart
33	chr4:16258600-16267400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:16258600-16268800	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:16258600-16270600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:16258600-16272000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr4:16258800-16261200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr4:16258800-16262600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:16258800-16267400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr4:16258800-16267400	Weak transcription	Fetal Intestine Small	intestine
41	chr4:16258800-16268000	Weak transcription	Fetal Stomach	stomach
42	chr4:16259000-16271000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr4:16259200-16263800	Weak transcription	Primary T cells from cord blood	blood
44	chr4:16259200-16264600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr4:16259200-16266200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:16259200-16271000	Weak transcription	Adipose Nuclei	Adipose
47	chr4:16259400-16270600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:16259400-16270800	Weak transcription	Fetal Muscle Leg	muscle
49	chr4:16259400-16272200	Weak transcription	Fetal Intestine Large	intestine
50	chr4:16259600-16262400	Weak transcription	Primary B cells from cord blood	blood

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