Variant report

Variant	rs2180196
Chromosome Location	chr14:24734645-24734646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:
2	chr14:24656467..24658398-chr14:24732926..24735303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196497	Chromatin interaction
ENSG00000100949	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11158632	0.86[GIH][hapmap];0.81[TSI][hapmap]
rs11621353	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11626191	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144494	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs2516564	0.90[GIH][hapmap]
rs3181384	0.90[GIH][hapmap]
rs4280164	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs4366641	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs4374085	0.90[GIH][hapmap];0.81[TSI][hapmap]
rs4981504	0.90[GIH][hapmap]
rs59227799	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573653	0.87[MEX][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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
2	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
3	chr14:24713200-24734800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:24713200-24734800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:24713200-24735400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:24716400-24735800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr14:24717200-24736000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:24721200-24739400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:24721600-24735600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
14	chr14:24722600-24740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:24724200-24734800	Weak transcription	Aorta	Aorta
16	chr14:24724400-24734800	Weak transcription	Thymus	Thymus
17	chr14:24724600-24734800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr14:24724600-24734800	Weak transcription	Brain Angular Gyrus	brain
19	chr14:24724800-24734800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:24725000-24734800	Weak transcription	Colonic Mucosa	Colon
21	chr14:24725000-24735000	Weak transcription	Primary B cells from cord blood	blood
22	chr14:24725800-24737800	Weak transcription	Psoas Muscle	Psoas
23	chr14:24726200-24739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:24726800-24739800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:24727800-24739800	Weak transcription	K562	blood
26	chr14:24728400-24739800	Strong transcription	Fetal Intestine Small	intestine
27	chr14:24728600-24736800	Strong transcription	Spleen	Spleen
28	chr14:24728800-24735600	Weak transcription	Ovary	ovary
29	chr14:24729000-24734800	Weak transcription	Adipose Nuclei	Adipose
30	chr14:24729000-24734800	Weak transcription	Right Ventricle	heart
31	chr14:24729000-24735000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:24729000-24735000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr14:24729000-24735000	Weak transcription	NHLF	lung
34	chr14:24729000-24736200	Weak transcription	Fetal Lung	lung
35	chr14:24729000-24738000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr14:24729000-24739800	Weak transcription	NH-A	brain
37	chr14:24729000-24740000	Weak transcription	HSMM	muscle
38	chr14:24729200-24738800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:24729600-24739600	Strong transcription	Fetal Stomach	stomach
40	chr14:24729600-24739800	Weak transcription	A549	lung
41	chr14:24729800-24739800	Weak transcription	Hela-S3	cervix
42	chr14:24730600-24735000	Weak transcription	Pancreas	Pancrea
43	chr14:24731400-24736800	Weak transcription	Stomach Mucosa	stomach
44	chr14:24731800-24739200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:24732000-24739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr14:24732000-24739600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:24732000-24739600	Strong transcription	Lung	lung
48	chr14:24732200-24735000	Enhancers	HMEC	breast
49	chr14:24732600-24740000	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:24732800-24735400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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