Variant report

Variant	rs7716224
Chromosome Location	chr5:43640942-43640943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43633423..43636903-chr5:43637902..43641426,4	K562	blood:
2	chr5:43638584..43640826-chr5:43640928..43642967,3	K562	blood:
3	chr5:43638584..43640141-chr5:43640928..43642967,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16873419	0.94[AFR][1000 genomes]
rs16873420	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs16873430	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs16873433	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs16873473	0.82[AFR][1000 genomes]
rs34225966	0.88[AFR][1000 genomes]
rs6862691	0.88[AFR][1000 genomes]
rs6868763	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6899284	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7716562	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7731399	1.00[AFR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv980970	chr5:43636826-43643825	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43604400-43649200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:43604400-43649200	Weak transcription	Esophagus	oesophagus
3	chr5:43604400-43660600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:43604600-43649800	Weak transcription	Colonic Mucosa	Colon
5	chr5:43604800-43649800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:43605000-43656000	Weak transcription	Small Intestine	intestine
7	chr5:43606800-43648200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr5:43610800-43649400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:43612600-43649400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:43612800-43647400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:43613400-43645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:43613800-43646200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:43614000-43647600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:43616000-43648200	Weak transcription	HepG2	liver
15	chr5:43619000-43642800	Weak transcription	Fetal Brain Male	brain
16	chr5:43620200-43650600	Weak transcription	Placenta	Placenta
17	chr5:43621200-43650200	Weak transcription	NHEK	skin
18	chr5:43621600-43651800	Weak transcription	HMEC	breast
19	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:43622200-43648200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:43623400-43645400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:43624200-43649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:43629000-43644400	Weak transcription	Fetal Intestine Small	intestine
24	chr5:43630200-43648800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:43630200-43658800	Weak transcription	Stomach Mucosa	stomach
26	chr5:43631600-43642200	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:43631600-43649200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:43631600-43651400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr5:43631600-43664200	Weak transcription	A549	lung
30	chr5:43633000-43649200	Weak transcription	Ovary	ovary
31	chr5:43633200-43642200	Weak transcription	Osteobl	bone
32	chr5:43633200-43642400	Weak transcription	Brain Anterior Caudate	brain
33	chr5:43633200-43643200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:43633200-43644600	Weak transcription	NH-A	brain
35	chr5:43633600-43642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr5:43633800-43648600	Weak transcription	Fetal Stomach	stomach
37	chr5:43634200-43648400	Weak transcription	HUVEC	blood vessel
38	chr5:43635000-43650000	Weak transcription	K562	blood
39	chr5:43635200-43644800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr5:43635200-43648000	Weak transcription	Fetal Lung	lung
41	chr5:43635400-43645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr5:43635400-43646000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:43635600-43642000	Weak transcription	Fetal Heart	heart
44	chr5:43635600-43642400	Weak transcription	Brain Angular Gyrus	brain
45	chr5:43635600-43644600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:43635600-43649000	Weak transcription	Brain Germinal Matrix	brain
47	chr5:43635800-43642000	Weak transcription	Gastric	stomach
48	chr5:43635800-43643400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr5:43635800-43644600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:43635800-43647800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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