Variant report

Variant	rs13425849
Chromosome Location	chr2:234331052-234331053
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234327625..234329207-chr2:234329605..234332542,2	MCF-7	breast:
2	chr2:234164721..234166387-chr2:234329039..234331585,2	K562	blood:
3	chr2:234320676..234323507-chr2:234330970..234332948,2	MCF-7	breast:
4	chr2:234330775..234332470-chr2:234335066..234337400,2	K562	blood:
5	chr2:234329436..234331641-chr2:234351887..234353732,2	MCF-7	breast:
6	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
7	chr2:234329612..234332276-chr2:234340900..234342662,2	K562	blood:
8	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:
9	chr2:234330110..234332906-chr2:234472869..234475585,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10168794	0.88[CEU][hapmap]
rs10181039	0.87[EUR][1000 genomes]
rs10193542	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1097930	1.00[CHB][hapmap]
rs1097931	1.00[CHB][hapmap]
rs11888993	0.82[ASN][1000 genomes]
rs11892545	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs1220430	1.00[CHB][hapmap]
rs12473824	1.00[CHB][hapmap]
rs13384932	0.88[CEU][hapmap]
rs13391864	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13392183	0.84[EUR][1000 genomes]
rs13393578	0.81[ASN][1000 genomes]
rs13400471	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13400563	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs13403169	0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13406462	1.00[JPT][hapmap]
rs13406655	0.82[JPT][hapmap]
rs13414407	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13419277	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1470864	1.00[CHB][hapmap]
rs1597940	1.00[CHB][hapmap]
rs2167884	1.00[CHB][hapmap]
rs2305541	0.87[ASN][1000 genomes]
rs2603545	1.00[CHB][hapmap]
rs2603547	1.00[CHB][hapmap]
rs28444082	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28506837	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28588417	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2924809	1.00[CHB][hapmap]
rs2924813	0.81[ASN][1000 genomes]
rs2971863	1.00[CHB][hapmap]
rs2971869	0.81[ASN][1000 genomes]
rs3762591	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59458664	0.89[ASN][1000 genomes]
rs6710645	1.00[CHB][hapmap]
rs6713866	0.84[EUR][1000 genomes]
rs6745134	0.88[CEU][hapmap]
rs6756068	1.00[CHB][hapmap]
rs73117507	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7422734	0.88[CEU][hapmap]
rs7572257	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7724	0.81[ASN][1000 genomes]
rs838543	1.00[CHB][hapmap]
rs838550	1.00[CHB][hapmap]
rs838552	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234323800-234334600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:234324400-234335000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:234326400-234331200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:234326400-234331600	Enhancers	Fetal Thymus	thymus
8	chr2:234326800-234331800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234327200-234331200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr2:234327400-234331200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:234327400-234331400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:234327600-234331200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr2:234327600-234331800	Active TSS	Psoas Muscle	Psoas
14	chr2:234328200-234331200	Enhancers	Lung	lung
15	chr2:234328200-234332200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:234328200-234333200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:234328200-234334200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:234328200-234335000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:234328400-234331200	Enhancers	HSMMtube	muscle
20	chr2:234328400-234332600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:234328600-234331800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:234328600-234332800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:234328800-234343000	Weak transcription	Liver	Liver
25	chr2:234329000-234331200	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:234329000-234332000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:234329000-234334800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
30	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
31	chr2:234329200-234331600	Weak transcription	NHLF	lung
32	chr2:234329200-234332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:234329200-234335000	Weak transcription	Aorta	Aorta
34	chr2:234329200-234335000	Weak transcription	Osteobl	bone
35	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
36	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:234329400-234333000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:234329600-234331600	Enhancers	Adipose Nuclei	Adipose
43	chr2:234329600-234335000	Weak transcription	HUVEC	blood vessel
44	chr2:234329800-234331200	Enhancers	Esophagus	oesophagus
45	chr2:234329800-234331200	Enhancers	Right Atrium	heart
46	chr2:234329800-234331400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr2:234330000-234331200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr2:234330000-234332000	Flanking Active TSS	Primary T cells from cord blood	blood
49	chr2:234330000-234332200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:234330000-234333000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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