Variant report

Variant	rs7621929
Chromosome Location	chr3:69150681-69150682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69143722..69145244-chr3:69149402..69151807,2	K562	blood:
2	chr3:69061746..69063360-chr3:69150145..69151694,2	K562	blood:
3	chr3:69142415..69145222-chr3:69150307..69152771,2	K562	blood:

Variant related genes	Relation type
ENSG00000244513	Chromatin interaction
ENSG00000163378	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10489	0.80[ASN][1000 genomes]
rs1051901	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1131960	1.00[EUR][1000 genomes]
rs12054346	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17005366	1.00[EUR][1000 genomes]
rs3772980	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3772983	1.00[EUR][1000 genomes]
rs3796213	1.00[ASN][1000 genomes]
rs3796214	1.00[EUR][1000 genomes]
rs3821564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56152276	1.00[EUR][1000 genomes]
rs56194306	1.00[EUR][1000 genomes]
rs56280964	1.00[EUR][1000 genomes]
rs57159802	1.00[EUR][1000 genomes]
rs58277851	1.00[EUR][1000 genomes]
rs59090383	1.00[EUR][1000 genomes]
rs60230066	0.97[ASN][1000 genomes]
rs60474520	1.00[EUR][1000 genomes]
rs72924853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72924854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73835722	1.00[EUR][1000 genomes]
rs73835726	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73835727	1.00[EUR][1000 genomes]
rs73835728	1.00[EUR][1000 genomes]
rs73835729	1.00[EUR][1000 genomes]
rs7617775	0.86[EUR][1000 genomes]
rs7621394	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625579	0.80[ASN][1000 genomes]
rs7627893	0.80[ASN][1000 genomes]
rs7629932	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69135200-69155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:69135800-69155800	Weak transcription	Fetal Kidney	kidney
3	chr3:69136800-69156400	Weak transcription	Fetal Brain Male	brain
4	chr3:69139800-69154600	Weak transcription	A549	lung
5	chr3:69141600-69151000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:69141600-69151400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:69141600-69151600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr3:69141600-69152400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:69141800-69150800	Weak transcription	Fetal Lung	lung
10	chr3:69142000-69160400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:69142200-69153400	Weak transcription	Fetal Brain Female	brain
12	chr3:69142400-69152200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr3:69143400-69150800	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr3:69143600-69151000	Weak transcription	Gastric	stomach
15	chr3:69143600-69151200	Weak transcription	Colonic Mucosa	Colon
16	chr3:69143600-69152600	Weak transcription	Ovary	ovary
17	chr3:69143600-69152800	Weak transcription	Brain Germinal Matrix	brain
18	chr3:69143600-69160200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr3:69144000-69150800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr3:69144000-69151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:69144000-69151000	Weak transcription	Liver	Liver
22	chr3:69144200-69151200	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:69144200-69153000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:69144400-69150800	Weak transcription	Fetal Intestine Large	intestine
25	chr3:69144400-69150800	Weak transcription	NHDF-Ad	bronchial
26	chr3:69145400-69150800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr3:69145400-69151000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:69145600-69151000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:69145600-69151000	Weak transcription	Stomach Mucosa	stomach
30	chr3:69145600-69151600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr3:69145600-69153600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:69145600-69160200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:69145800-69151000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:69145800-69153400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:69145800-69160200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:69146000-69151000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr3:69146200-69150800	Weak transcription	HepG2	liver
38	chr3:69146200-69160200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:69146600-69151200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr3:69147000-69150800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr3:69147000-69151000	Weak transcription	Colon Smooth Muscle	Colon
42	chr3:69147200-69150800	Weak transcription	Osteobl	bone
43	chr3:69147200-69151000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr3:69147200-69151000	Weak transcription	HSMM	muscle
45	chr3:69147200-69151000	Weak transcription	HUVEC	blood vessel
46	chr3:69147200-69151000	Weak transcription	NHEK	skin
47	chr3:69147200-69151600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:69147400-69160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr3:69147800-69151000	Weak transcription	HMEC	breast
50	chr3:69147800-69151200	Enhancers	Fetal Heart	heart

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