Variant report

Variant	rs13414174
Chromosome Location	chr2:30368621-30368622
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	POLR2A	chr2:30368576-30371359	MCF10A-Er-Src	breast:	n/a	n/a
2	REST	chr2:30368584-30371302	H1-neurons	neurons:	n/a	chr2:30369549-30369563 chr2:30369595-30369608 chr2:30369551-30369561
3	CHD1	chr2:30368604-30371625	IMR90	lung:	n/a	chr2:30369572-30369582 chr2:30369567-30369577
4	POLR2A	chr2:30368612-30371120	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:30361445..30366413-chr2:30367443..30370864,6	MCF-7	breast:
2	chr2:30361415..30365100-chr2:30365958..30368991,4	K562	blood:
3	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
4	chr2:30363131..30365100-chr2:30367257..30368991,2	K562	blood:
5	chr2:30337518..30339089-chr2:30368226..30369771,2	K562	blood:
6	chr2:30357579..30360858-chr2:30368602..30370618,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233862	TF binding region
YPEL5	TF binding region
ENSG00000119801	Chromatin interaction
ENSG00000233862	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10171126	0.90[AMR][1000 genomes]
rs10190925	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13387960	0.90[AMR][1000 genomes]
rs13388821	0.81[AMR][1000 genomes]
rs13401621	0.82[LWK][hapmap];1.00[MEX][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13402417	0.81[AMR][1000 genomes]
rs13403955	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs13412185	0.81[ASW][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13415390	0.81[AMR][1000 genomes]
rs13415732	0.90[AMR][1000 genomes]
rs13417286	0.90[AMR][1000 genomes]
rs13419838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13424818	0.81[AMR][1000 genomes]
rs60363102	0.90[AMR][1000 genomes]
rs6547995	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72861874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7561610	0.90[AMR][1000 genomes]
rs7583803	0.93[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1794716	chr2:30356661-30370785	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30367600-30368800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr2:30367600-30368800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:30367600-30368800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr2:30367600-30368800	Enhancers	Fetal Thymus	thymus
5	chr2:30367800-30368800	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:30368000-30368800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:30368000-30368800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:30368200-30368800	Enhancers	Primary B cells from cord blood	blood
9	chr2:30368400-30368800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:30368400-30368800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:30368400-30369000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:30368600-30368800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:30368600-30368800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:30368600-30368800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:30368600-30368800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:30368600-30368800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:30368600-30368800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr2:30368600-30368800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:30368600-30368800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:30368600-30368800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:30368600-30368800	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:30368600-30368800	Enhancers	Brain Hippocampus Middle	brain
23	chr2:30368600-30368800	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr2:30368600-30368800	Enhancers	Colonic Mucosa	Colon
25	chr2:30368600-30368800	Enhancers	Colon Smooth Muscle	Colon
26	chr2:30368600-30368800	Enhancers	Duodenum Mucosa	Duodenum
27	chr2:30368600-30368800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:30368600-30368800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:30368600-30368800	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:30368600-30368800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr2:30368600-30368800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr2:30368600-30368800	Enhancers	Thymus	Thymus
33	chr2:30368600-30368800	Bivalent Enhancer	A549	lung
34	chr2:30368600-30368800	Enhancers	Dnd41	blood
35	chr2:30368600-30368800	Bivalent Enhancer	HepG2	liver
36	chr2:30368600-30368800	Enhancers	K562	blood
37	chr2:30368600-30368800	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr2:30368600-30368800	Enhancers	NHLF	lung
39	chr2:30368600-30368800	Enhancers	Osteobl	bone
40	chr2:30368600-30369000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:30368600-30369000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr2:30368600-30369000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:30368600-30369000	Enhancers	Brain Substantia Nigra	brain
44	chr2:30368600-30369000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr2:30368600-30369000	Enhancers	Fetal Intestine Small	intestine
46	chr2:30368600-30369000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr2:30368600-30369000	Enhancers	Fetal Muscle Leg	muscle
48	chr2:30368600-30369000	Enhancers	Fetal Stomach	stomach
49	chr2:30368600-30369200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:30368600-30369200	Flanking Active TSS	Primary T cells from cord blood	blood

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