Variant report

Variant	rs28714188
Chromosome Location	chr7:40014714-40014715
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:39992179..39995720-chr7:40011134..40014847,3	K562	blood:
2	chr7:39988178..39991178-chr7:40012997..40016738,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259826	Chromatin interaction
ENSG00000065883	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10228050	1.00[EUR][1000 genomes]
rs10236585	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10241287	1.00[EUR][1000 genomes]
rs10241835	1.00[EUR][1000 genomes]
rs10244506	1.00[EUR][1000 genomes]
rs10256280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10256385	1.00[EUR][1000 genomes]
rs10257242	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10258115	1.00[EUR][1000 genomes]
rs10259564	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10267751	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10270724	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10271401	1.00[EUR][1000 genomes]
rs10275367	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1060299	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17171630	1.00[EUR][1000 genomes]
rs17171636	0.87[AFR][1000 genomes]
rs17171639	1.00[EUR][1000 genomes]
rs17171643	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17171644	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17171648	1.00[EUR][1000 genomes]
rs17171649	1.00[EUR][1000 genomes]
rs17496395	1.00[EUR][1000 genomes]
rs17537831	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17538020	1.00[EUR][1000 genomes]
rs28374865	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28823992	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56885787	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56890877	1.00[EUR][1000 genomes]
rs57300694	1.00[EUR][1000 genomes]
rs57667402	1.00[EUR][1000 genomes]
rs57765448	1.00[EUR][1000 genomes]
rs58787667	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59146346	1.00[EUR][1000 genomes]
rs59537889	1.00[EUR][1000 genomes]
rs59749446	1.00[EUR][1000 genomes]
rs60101070	1.00[EUR][1000 genomes]
rs60615872	1.00[EUR][1000 genomes]
rs60806836	1.00[EUR][1000 genomes]
rs61635237	1.00[EUR][1000 genomes]
rs6462957	1.00[EUR][1000 genomes]
rs6462958	1.00[EUR][1000 genomes]
rs6462960	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6946176	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953989	1.00[EUR][1000 genomes]
rs6955589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6958792	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6964473	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965022	1.00[EUR][1000 genomes]
rs6973262	1.00[EUR][1000 genomes]
rs6976377	1.00[EUR][1000 genomes]
rs73381425	1.00[EUR][1000 genomes]
rs73381435	1.00[EUR][1000 genomes]
rs73381438	1.00[EUR][1000 genomes]
rs73381440	1.00[EUR][1000 genomes]
rs73381453	1.00[EUR][1000 genomes]
rs73392755	0.82[AFR][1000 genomes]
rs73392765	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7794028	1.00[EUR][1000 genomes]
rs7809754	1.00[EUR][1000 genomes]
rs9655408	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv887975	chr7:39858378-40124137	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
3	nsv887976	chr7:39874986-40018693	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv887977	chr7:39885541-40018693	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	nsv1015322	chr7:40006195-40141195	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761319	chr7:40006195-40142139	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39993600-40048200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:39994200-40027200	Weak transcription	HSMM	muscle
3	chr7:39994800-40018000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:39995000-40018200	Weak transcription	Spleen	Spleen
5	chr7:39995200-40042600	Weak transcription	K562	blood
6	chr7:39996800-40014800	Weak transcription	Right Ventricle	heart
7	chr7:39996800-40016600	Weak transcription	Gastric	stomach
8	chr7:39997200-40015200	Weak transcription	Small Intestine	intestine
9	chr7:39997800-40027400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:39998000-40027200	Weak transcription	Hela-S3	cervix
11	chr7:40000400-40016600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:40001000-40016600	Weak transcription	Dnd41	blood
13	chr7:40001000-40018600	Weak transcription	Thymus	Thymus
14	chr7:40001200-40014800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:40001200-40016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:40001200-40018200	Weak transcription	Fetal Thymus	thymus
17	chr7:40005600-40021000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr7:40005600-40021000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr7:40006200-40015000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr7:40006600-40018200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr7:40006600-40019800	Enhancers	Primary B cells from peripheral blood	blood
22	chr7:40006800-40031200	Weak transcription	Fetal Stomach	stomach
23	chr7:40007000-40014800	Weak transcription	Left Ventricle	heart
24	chr7:40007000-40014800	Weak transcription	Psoas Muscle	Psoas
25	chr7:40007200-40017400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:40007200-40027200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:40007600-40027200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:40008200-40016400	Weak transcription	Aorta	Aorta
29	chr7:40008200-40016800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:40008800-40018200	Weak transcription	Right Atrium	heart
31	chr7:40009000-40016800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:40009400-40015200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr7:40009400-40020800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr7:40009400-40027200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr7:40009400-40027400	Weak transcription	Osteobl	bone
36	chr7:40009600-40015200	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:40009600-40016000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:40009600-40016600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr7:40009600-40016600	Weak transcription	Brain Substantia Nigra	brain
40	chr7:40009600-40018000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:40009600-40027400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:40009800-40027200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:40010000-40016400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:40010000-40024600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:40010000-40026800	Weak transcription	NHEK	skin
46	chr7:40010200-40025000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr7:40010400-40027200	Weak transcription	Esophagus	oesophagus
48	chr7:40011000-40014800	Weak transcription	Pancreas	Pancrea
49	chr7:40011000-40021000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr7:40011200-40016600	Weak transcription	Rectal Smooth Muscle	rectum

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