Variant report

Variant	rs4723890
Chromosome Location	chr7:39697667-39697668
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39696448..39698562-chr7:39706313..39708864,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11983705	0.90[EUR][1000 genomes]
rs11983755	0.90[EUR][1000 genomes]
rs16870185	0.91[EUR][1000 genomes]
rs16880073	0.90[EUR][1000 genomes]
rs17171605	0.90[EUR][1000 genomes]
rs17171606	0.90[EUR][1000 genomes]
rs2329409	0.90[EUR][1000 genomes]
rs2876857	0.90[EUR][1000 genomes]
rs2876859	0.90[EUR][1000 genomes]
rs2876860	0.90[EUR][1000 genomes]
rs4236361	0.90[EUR][1000 genomes]
rs4236362	0.90[EUR][1000 genomes]
rs4236363	0.90[EUR][1000 genomes]
rs4720332	1.00[EUR][1000 genomes]
rs4723886	0.90[EUR][1000 genomes]
rs4723896	0.91[EUR][1000 genomes]
rs56844739	0.90[EUR][1000 genomes]
rs56895888	0.90[EUR][1000 genomes]
rs59434915	1.00[EUR][1000 genomes]
rs6948816	1.00[EUR][1000 genomes]
rs6949371	1.00[EUR][1000 genomes]
rs6963428	1.00[EUR][1000 genomes]
rs73377388	0.90[EUR][1000 genomes]
rs73379304	0.90[EUR][1000 genomes]
rs73689214	1.00[EUR][1000 genomes]
rs73689251	1.00[EUR][1000 genomes]
rs73689252	1.00[EUR][1000 genomes]
rs73689294	0.91[EUR][1000 genomes]
rs7788924	1.00[EUR][1000 genomes]
rs7789326	0.91[EUR][1000 genomes]
rs7805611	1.00[EUR][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	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39667200-39698800	Weak transcription	Fetal Kidney	kidney
2	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
3	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr7:39675600-39701400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:39680000-39700800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:39680000-39701000	Weak transcription	Esophagus	oesophagus
7	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr7:39680800-39704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:39680800-39716400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr7:39682000-39700600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:39682000-39704000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:39682000-39704000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:39682400-39700600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:39682600-39702600	Weak transcription	Gastric	stomach
15	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:39683400-39701200	Weak transcription	Lung	lung
17	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr7:39683600-39712600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:39686200-39704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:39687400-39715000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr7:39688000-39697800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr7:39688400-39700600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:39688400-39702200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:39689200-39703800	Weak transcription	Psoas Muscle	Psoas
25	chr7:39690200-39706600	Weak transcription	Fetal Heart	heart
26	chr7:39691800-39698400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:39691800-39698600	Weak transcription	Ovary	ovary
28	chr7:39691800-39699000	Weak transcription	NH-A	brain
29	chr7:39691800-39699200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:39691800-39700400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr7:39691800-39707000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr7:39691800-39708800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr7:39692000-39699000	Weak transcription	Osteobl	bone
34	chr7:39692000-39701200	Weak transcription	Duodenum Mucosa	Duodenum
35	chr7:39692000-39707000	Weak transcription	Stomach Mucosa	stomach
36	chr7:39692000-39707000	Weak transcription	HSMMtube	muscle
37	chr7:39692000-39707200	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:39692200-39698600	Weak transcription	NHLF	lung
39	chr7:39692200-39699000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:39692200-39714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:39694400-39697800	Strong transcription	HSMM	muscle
42	chr7:39694400-39700200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:39694600-39700200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr7:39694800-39699000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr7:39694800-39699200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:39694800-39700400	Weak transcription	Fetal Intestine Small	intestine
47	chr7:39694800-39701200	Weak transcription	Fetal Stomach	stomach
48	chr7:39695000-39699800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:39695000-39700400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:39695000-39700600	Weak transcription	NHEK	skin

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