Variant report

Variant	rs73116672
Chromosome Location	chr4:26938919-26938920
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	chr4:26930423..26932416-chr4:26938011..26939754,2	K562	blood:
2	chr4:26929049..26932416-chr4:26937175..26939754,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10028164	1.00[EUR][1000 genomes]
rs10031905	1.00[EUR][1000 genomes]
rs1035075	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1860981	1.00[EUR][1000 genomes]
rs2192241	1.00[EUR][1000 genomes]
rs2309497	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28489605	1.00[EUR][1000 genomes]
rs4129747	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4140681	1.00[EUR][1000 genomes]
rs4599399	1.00[EUR][1000 genomes]
rs4692016	1.00[EUR][1000 genomes]
rs4692017	1.00[EUR][1000 genomes]
rs4692018	1.00[EUR][1000 genomes]
rs4692138	1.00[EUR][1000 genomes]
rs55646519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56001106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56810203	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57668778	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57810647	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59530500	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59678983	1.00[EUR][1000 genomes]
rs61084398	1.00[EUR][1000 genomes]
rs6448490	1.00[EUR][1000 genomes]
rs6841079	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6858361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116642	1.00[EUR][1000 genomes]
rs73116643	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73116645	1.00[EUR][1000 genomes]
rs73116652	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116653	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116657	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116660	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116670	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7670520	1.00[EUR][1000 genomes]
rs7688601	1.00[EUR][1000 genomes]
rs887792	1.00[EUR][1000 genomes]
rs887794	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9790760	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470021	chr4:26721578-27067027	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1001306	chr4:26821511-26955344	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv461312	chr4:26844674-27078376	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv593872	chr4:26844674-27078376	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1000568	chr4:26886920-27049554	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26911600-26965800	Weak transcription	HMEC	breast
2	chr4:26914800-26942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:26918400-26939800	Weak transcription	Fetal Heart	heart
4	chr4:26922800-26941400	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:26923000-26940200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:26923000-26942400	Weak transcription	Fetal Brain Male	brain
7	chr4:26923000-26942400	Weak transcription	Left Ventricle	heart
8	chr4:26923200-26939400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:26923200-26941400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr4:26923200-26942400	Weak transcription	Brain Angular Gyrus	brain
11	chr4:26923200-26965800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:26923200-26977200	Weak transcription	Thymus	Thymus
13	chr4:26923400-26954400	Weak transcription	HSMM	muscle
14	chr4:26923400-26960600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:26923800-26943800	Weak transcription	Fetal Lung	lung
16	chr4:26924400-26940200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:26924400-26940600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:26924400-26955200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:26924600-26940000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr4:26933000-26942400	Weak transcription	Right Atrium	heart
21	chr4:26934800-26940800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:26936000-26940400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr4:26936000-26940400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:26936000-26944600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr4:26936200-26939200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:26936400-26939200	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr4:26936400-26939600	Enhancers	Primary B cells from cord blood	blood
28	chr4:26936400-26939600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr4:26936800-26939600	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:26937400-26939400	Weak transcription	Fetal Intestine Small	intestine
31	chr4:26937400-26941400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:26937800-26939600	Enhancers	Stomach Mucosa	stomach
33	chr4:26937800-26942200	Enhancers	K562	blood
34	chr4:26938000-26939000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr4:26938000-26939200	Enhancers	Duodenum Mucosa	Duodenum
36	chr4:26938000-26939600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr4:26938000-26945000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr4:26938200-26939200	Enhancers	GM12878-XiMat	blood
39	chr4:26938400-26939000	Enhancers	Spleen	Spleen
40	chr4:26938400-26939200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr4:26938400-26939200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:26938400-26939200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr4:26938400-26939200	Enhancers	Ovary	ovary
44	chr4:26938400-26939200	Enhancers	Pancreas	Pancrea
45	chr4:26938400-26940400	Weak transcription	Primary T cells from cord blood	blood
46	chr4:26938400-26941600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:26938600-26939000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:26938600-26969000	Weak transcription	Gastric	stomach
49	chr4:26938800-26939000	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr4:26938800-26939400	Weak transcription	Small Intestine	intestine

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