Variant report

Variant	rs73295543
Chromosome Location	chr7:27800459-27800460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27777744..27779803-chr7:27800371..27802396,2	K562	blood:
2	chr7:27779192..27781381-chr7:27799136..27801395,2	MCF-7	breast:
3	chr7:27788924..27791824-chr7:27799682..27802351,2	K562	blood:

Variant related genes	Relation type
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10486560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981473	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11981639	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11982051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155661	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155671	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17155813	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17155815	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs17155818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4299908	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57293935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57355732	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs59134341	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60524058	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60811898	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61226834	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6462046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6942560	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6952476	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958438	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6958646	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6963125	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6969000	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73293835	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293842	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293856	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293862	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293868	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293882	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73293888	0.87[AFR][1000 genomes]
rs73293893	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295519	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73295545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73295567	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73297535	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7783141	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7783426	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7803672	0.94[AFR][1000 genomes];0.89[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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1028469	chr7:27767795-27939667	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27780800-27805600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:27780800-27810200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:27780800-27815200	Weak transcription	Gastric	stomach
4	chr7:27781000-27861800	Weak transcription	Aorta	Aorta
5	chr7:27781400-27803200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:27781400-27812800	Weak transcription	Brain Germinal Matrix	brain
7	chr7:27784800-27801000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr7:27785000-27805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:27785000-27806200	Weak transcription	Spleen	Spleen
12	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:27787000-27804200	Weak transcription	Fetal Intestine Small	intestine
15	chr7:27787600-27805600	Weak transcription	Pancreas	Pancrea
16	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
18	chr7:27788200-27801600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:27788200-27801800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:27788200-27801800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr7:27788200-27802200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr7:27788400-27801800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:27789000-27800800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:27789000-27801200	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr7:27789600-27811000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:27789800-27805400	Weak transcription	Esophagus	oesophagus
27	chr7:27790200-27815200	Weak transcription	Psoas Muscle	Psoas
28	chr7:27790600-27801000	Weak transcription	Fetal Brain Female	brain
29	chr7:27790600-27825000	Weak transcription	NHLF	lung
30	chr7:27790600-27835000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
32	chr7:27790800-27800600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr7:27791000-27805400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:27791600-27810000	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:27791800-27805400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:27792000-27801000	Weak transcription	Fetal Brain Male	brain
37	chr7:27792000-27802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:27792200-27801000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:27792200-27803200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:27792200-27805400	Weak transcription	Left Ventricle	heart
41	chr7:27792200-27805400	Weak transcription	Thymus	Thymus
42	chr7:27792200-27805800	Weak transcription	Right Ventricle	heart
43	chr7:27792200-27810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr7:27792200-27810200	Weak transcription	HMEC	breast
45	chr7:27792200-27825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:27792200-27825000	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:27792400-27810200	Weak transcription	Hela-S3	cervix
48	chr7:27792400-27822600	Weak transcription	HSMMtube	muscle
49	chr7:27792600-27803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:27792800-27825200	Weak transcription	Lung	lung

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