Variant report

Variant	rs73684048
Chromosome Location	chr7:27801912-27801913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27784235..27786861-chr7:27801505..27804201,3	K562	blood:
2	chr7:27777744..27779803-chr7:27800371..27802396,2	K562	blood:
3	chr7:27788924..27791824-chr7:27799682..27802351,2	K562	blood:

Variant related genes	Relation type
ENSG00000106052	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs17155954	0.81[ASN][1000 genomes]
rs2299105	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55901354	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56916239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56995723	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58546705	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58651394	0.89[ASN][1000 genomes]
rs58947798	1.00[AMR][1000 genomes]
rs59041966	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59614135	0.96[ASN][1000 genomes]
rs60636413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684028	0.96[ASN][1000 genomes]
rs73684030	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73684035	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684037	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684050	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684052	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684053	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs73684055	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684057	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73684058	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73685827	0.83[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	chr7:27784800-27834000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:27784800-27878400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:27785000-27805600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:27785000-27806200	Weak transcription	Spleen	Spleen
11	chr7:27785000-27825000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:27785200-27809800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:27787000-27804200	Weak transcription	Fetal Intestine Small	intestine
14	chr7:27787600-27805600	Weak transcription	Pancreas	Pancrea
15	chr7:27787600-27825000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:27787800-27826600	Weak transcription	Small Intestine	intestine
17	chr7:27788200-27802200	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr7:27789600-27811000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:27789800-27805400	Weak transcription	Esophagus	oesophagus
20	chr7:27790200-27815200	Weak transcription	Psoas Muscle	Psoas
21	chr7:27790600-27825000	Weak transcription	NHLF	lung
22	chr7:27790600-27835000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr7:27790600-27857400	Weak transcription	Colonic Mucosa	Colon
24	chr7:27791000-27805400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:27791600-27810000	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:27791800-27805400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr7:27792000-27802000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:27792200-27803200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:27792200-27805400	Weak transcription	Left Ventricle	heart
30	chr7:27792200-27805400	Weak transcription	Thymus	Thymus
31	chr7:27792200-27805800	Weak transcription	Right Ventricle	heart
32	chr7:27792200-27810200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:27792200-27810200	Weak transcription	HMEC	breast
34	chr7:27792200-27825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:27792200-27825000	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:27792400-27810200	Weak transcription	Hela-S3	cervix
37	chr7:27792400-27822600	Weak transcription	HSMMtube	muscle
38	chr7:27792600-27803800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:27792800-27825200	Weak transcription	Lung	lung
40	chr7:27794000-27802200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr7:27794400-27802400	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr7:27795200-27805200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:27795600-27802800	Strong transcription	Primary B cells from cord blood	blood
44	chr7:27796600-27803600	Weak transcription	NH-A	brain
45	chr7:27796600-27819400	Weak transcription	Fetal Heart	heart
46	chr7:27797400-27802200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:27798000-27803800	Weak transcription	K562	blood
48	chr7:27798200-27804800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr7:27798400-27805400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:27798400-27809400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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