Variant report

Variant	rs2306349
Chromosome Location	chr5:5473866-5473867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:5422836..5425566-chr5:5471432..5473877,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED10-15	chr5:5473864-5473953	l_2859_chr5:5473863-5475127_heart

Variant related genes	Relation type
ENSG00000164151	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10462631	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473230	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875568	0.94[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16875578	0.90[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16875584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875589	0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16875590	0.89[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16875597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16875609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16875617	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16875618	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16875619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16900247	0.81[EUR][1000 genomes]
rs35190184	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3747730	0.82[CEU][hapmap]
rs3806873	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs3806874	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs4283757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4701700	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4702268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702269	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4702270	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4702271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6874726	1.00[YRI][hapmap]
rs6874736	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72646678	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs728079	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73736664	1.00[EUR][1000 genomes]
rs7713294	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713609	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7714569	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	esv2757981	chr5:5447098-5764620	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv2759319	chr5:5447098-5764620	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5430200-5478800	Weak transcription	Stomach Mucosa	stomach
2	chr5:5433400-5495200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:5436600-5478200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:5437200-5477000	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:5437400-5480000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:5442400-5475800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:5458600-5495000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:5458800-5474400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:5460000-5481600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:5462400-5494600	Weak transcription	Colonic Mucosa	Colon
11	chr5:5463000-5474800	Weak transcription	Brain Angular Gyrus	brain
12	chr5:5463000-5474800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:5463000-5493800	Weak transcription	Fetal Heart	heart
14	chr5:5463400-5480800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:5463600-5474800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:5463800-5475200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:5463800-5483600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:5464400-5474600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:5464400-5476600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:5464800-5474800	Weak transcription	NHLF	lung
21	chr5:5464800-5475600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:5465000-5474400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr5:5465000-5474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:5465000-5475200	Weak transcription	Thymus	Thymus
25	chr5:5465000-5475800	Weak transcription	Pancreas	Pancrea
26	chr5:5465200-5474400	Weak transcription	Aorta	Aorta
27	chr5:5465200-5474400	Weak transcription	Small Intestine	intestine
28	chr5:5465200-5474800	Weak transcription	Fetal Intestine Small	intestine
29	chr5:5465200-5474800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:5465200-5475200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:5465200-5475200	Weak transcription	Esophagus	oesophagus
32	chr5:5465200-5475800	Weak transcription	Lung	lung
33	chr5:5465200-5476600	Weak transcription	Spleen	Spleen
34	chr5:5465200-5482600	Weak transcription	Gastric	stomach
35	chr5:5465200-5493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr5:5465200-5495000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:5465400-5474400	Weak transcription	Left Ventricle	heart
38	chr5:5465400-5474800	Weak transcription	Right Ventricle	heart
39	chr5:5465400-5476600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr5:5466400-5474400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:5466400-5474400	Weak transcription	HMEC	breast
42	chr5:5466400-5475600	Weak transcription	NHDF-Ad	bronchial
43	chr5:5466600-5474400	Weak transcription	Fetal Stomach	stomach
44	chr5:5466600-5474400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr5:5466800-5474600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:5467000-5475200	Weak transcription	HSMMtube	muscle
47	chr5:5467000-5476400	Weak transcription	Brain Germinal Matrix	brain
48	chr5:5467400-5474200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr5:5467400-5474600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr5:5467400-5474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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