Variant report

Variant	rs2227801
Chromosome Location	chr5:76030694-76030695
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:76019532..76021733-chr5:76028622..76031324,3	K562	blood:
2	chr5:76025270..76027765-chr5:76030412..76033336,2	K562	blood:
3	chr5:76021774..76024376-chr5:76030614..76032176,2	K562	blood:
4	chr5:76028712..76031262-chr5:76040651..76044472,3	K562	blood:
5	chr5:76017345..76018968-chr5:76030272..76032343,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11948894	1.00[MKK][hapmap]
rs11949036	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11955316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16873536	1.00[AMR][1000 genomes]
rs2227765	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227776	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227778	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227780	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227794	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227798	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1035135	chr5:75927027-76092058	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv882208	chr5:75997213-76034355	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882209	chr5:76004933-76034355	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76013000-76032000	Weak transcription	HSMM	muscle
2	chr5:76013000-76033000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:76013800-76030800	Weak transcription	Ovary	ovary
4	chr5:76018400-76034400	Weak transcription	Left Ventricle	heart
5	chr5:76021200-76034200	Weak transcription	HepG2	liver
6	chr5:76026200-76030800	Weak transcription	Fetal Brain Male	brain
7	chr5:76026200-76030800	Strong transcription	NHLF	lung
8	chr5:76026200-76031800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:76026200-76033200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:76026200-76034600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:76026400-76031800	Weak transcription	Fetal Heart	heart
12	chr5:76026400-76031800	Weak transcription	NHEK	skin
13	chr5:76026400-76034200	Weak transcription	Small Intestine	intestine
14	chr5:76026400-76042800	Weak transcription	Right Atrium	heart
15	chr5:76026600-76031200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:76026800-76031800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:76026800-76034800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr5:76027200-76034200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:76028200-76030800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:76028200-76030800	Strong transcription	NHDF-Ad	bronchial
21	chr5:76028200-76031200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:76028200-76031200	Strong transcription	Osteobl	bone
23	chr5:76028800-76031800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:76028800-76033600	Weak transcription	Lung	lung
25	chr5:76028800-76034200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:76028800-76034800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr5:76029000-76034600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:76029000-76034800	Weak transcription	Adipose Nuclei	Adipose
29	chr5:76029200-76031600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:76029200-76031800	Weak transcription	Fetal Muscle Leg	muscle
31	chr5:76029200-76031800	Weak transcription	Spleen	Spleen
32	chr5:76029200-76032000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr5:76029200-76034400	Weak transcription	Fetal Intestine Small	intestine
34	chr5:76029200-76034600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:76029200-76034600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:76029200-76034600	Weak transcription	Fetal Stomach	stomach
37	chr5:76029200-76034800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr5:76029200-76034800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr5:76029200-76035400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:76029600-76031600	Weak transcription	K562	blood
41	chr5:76029600-76032000	Weak transcription	Fetal Kidney	kidney
42	chr5:76029600-76032800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:76029600-76033000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr5:76030000-76034800	Weak transcription	HMEC	breast
45	chr5:76030000-76040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr5:76030200-76031800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:76030200-76031800	Weak transcription	Aorta	Aorta
48	chr5:76030200-76031800	Weak transcription	Brain Germinal Matrix	brain
49	chr5:76030200-76032000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:76030200-76033000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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