Variant report

Variant	rs3021148
Chromosome Location	chr4:2957854-2957855
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2945679..2948353-chr4:2957351..2959133,2	K562	blood:
2	chr4:2936900..2939416-chr4:2956780..2960043,4	K562	blood:
3	chr4:2956703..2959553-chr4:2975091..2977278,2	MCF-7	breast:
4	chr4:2763361..2765852-chr4:2956755..2959410,2	MCF-7	breast:
5	chr4:2950471..2953919-chr4:2954876..2958140,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16843511	1.00[CEU][hapmap]
rs2515930	0.84[ASW][hapmap];1.00[MEX][hapmap]
rs2515962	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28474697	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2960309	0.87[AMR][1000 genomes]
rs3021137	1.00[YRI][hapmap]

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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2938000-2960400	Weak transcription	Right Atrium	heart
2	chr4:2938200-2962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:2938400-2959600	Strong transcription	Brain Anterior Caudate	brain
4	chr4:2938400-2962200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr4:2938600-2960400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:2938600-2960400	Strong transcription	Brain Cingulate Gyrus	brain
7	chr4:2938600-2961000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:2938600-2961600	Strong transcription	Primary T cells from cord blood	blood
9	chr4:2938600-2961600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:2938800-2959200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:2938800-2961000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr4:2938800-2961000	Strong transcription	Primary hematopoietic stem cells	blood
13	chr4:2938800-2961000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:2939000-2958400	Strong transcription	Brain Substantia Nigra	brain
15	chr4:2939000-2960200	Strong transcription	Lung	lung
16	chr4:2939000-2961600	Strong transcription	Fetal Stomach	stomach
17	chr4:2939200-2959200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:2939200-2959600	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr4:2939200-2960000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr4:2939200-2960600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:2939200-2961000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
23	chr4:2939400-2959000	Strong transcription	Ovary	ovary
24	chr4:2939400-2959400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:2939400-2959600	Strong transcription	Adipose Nuclei	Adipose
26	chr4:2939400-2959600	Strong transcription	HUVEC	blood vessel
27	chr4:2939400-2959800	Strong transcription	Fetal Muscle Leg	muscle
28	chr4:2939400-2960000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr4:2939400-2960400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr4:2939400-2960400	Strong transcription	NHLF	lung
31	chr4:2939400-2960600	Strong transcription	Brain Hippocampus Middle	brain
32	chr4:2939400-2962200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:2939600-2959200	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr4:2939600-2959400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:2939600-2959400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr4:2939600-2959600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:2939600-2959600	Strong transcription	Osteobl	bone
38	chr4:2939600-2960000	Strong transcription	Spleen	Spleen
39	chr4:2939600-2960800	Strong transcription	Fetal Brain Female	brain
40	chr4:2939600-2961400	Strong transcription	Dnd41	blood
41	chr4:2939600-2961600	Strong transcription	Fetal Thymus	thymus
42	chr4:2939800-2960600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr4:2939800-2960600	Strong transcription	HepG2	liver
44	chr4:2940000-2960000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:2940000-2960400	Strong transcription	NHEK	skin
46	chr4:2940000-2962200	Strong transcription	Primary B cells from peripheral blood	blood
47	chr4:2940400-2959600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:2940600-2958800	Strong transcription	Colon Smooth Muscle	Colon
49	chr4:2940600-2959800	Strong transcription	Rectal Smooth Muscle	rectum
50	chr4:2941400-2960000	Strong transcription	Brain Angular Gyrus	brain

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