Variant report

Variant	rs2033255
Chromosome Location	chr14:81650364-81650365
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
2	chr14:81645137..81647091-chr14:81650122..81652233,2	K562	blood:
3	chr14:81649228..81655392-chr14:81682762..81688409,10	K562	blood:
4	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:
5	chr14:81647401..81650665-chr14:81685451..81688014,6	MCF-7	breast:
6	chr14:81649550..81651536-chr14:81676600..81679545,2	K562	blood:
7	chr14:81637815..81640374-chr14:81649220..81650814,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10130030	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10135816	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10136239	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10137342	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs10140780	0.85[AFR][1000 genomes]
rs10145323	0.92[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10148333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11851828	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12437268	0.82[JPT][hapmap]
rs17094177	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17111611	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17111627	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap]
rs17111651	1.00[JPT][hapmap]
rs17111691	1.00[JPT][hapmap]
rs28656130	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3815952	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59666109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73344366	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73346377	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8005919	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9323697	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv983963	chr14:81649917-81652878	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
3	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
4	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:81637200-81652600	Weak transcription	NHEK	skin
8	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
9	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
11	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
13	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
14	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr14:81637400-81656800	Weak transcription	HMEC	breast
20	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
21	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr14:81637600-81652400	Weak transcription	A549	lung
23	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
24	chr14:81639400-81653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:81640000-81657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:81640000-81658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr14:81642400-81658800	Weak transcription	Pancreas	Pancrea
28	chr14:81643600-81654200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:81643600-81658800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:81644000-81655400	Strong transcription	Dnd41	blood
32	chr14:81644200-81658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:81644400-81652400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:81644600-81655400	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:81644600-81658200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr14:81644600-81658600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:81644600-81658800	Weak transcription	Brain Angular Gyrus	brain
39	chr14:81644600-81666400	Weak transcription	Stomach Mucosa	stomach
40	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
41	chr14:81644800-81675600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:81645000-81658800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:81645200-81655000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:81645400-81653200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:81645600-81653800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:81645600-81654800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr14:81645800-81650400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:81646000-81650400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr14:81646000-81651000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:81646000-81664800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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