Variant report

Variant	rs73830670
Chromosome Location	chr3:46014134-46014135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46013767..46016030-chr3:46019815..46022441,2	K562	blood:
2	chr3:46004092..46006174-chr3:46012049..46014737,3	K562	blood:
3	chr3:46011530..46014566-chr3:46015264..46018457,3	K562	blood:
4	chr3:46012995..46015119-chr3:46035570..46037691,2	K562	blood:
5	chr3:46011776..46015982-chr3:46034359..46039002,5	K562	blood:
6	chr3:46014022..46017742-chr3:46018515..46020350,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17078681	1.00[EUR][1000 genomes]
rs2201148	1.00[EUR][1000 genomes]
rs2234355	1.00[EUR][1000 genomes]
rs41326147	1.00[EUR][1000 genomes]
rs41364446	1.00[EUR][1000 genomes]
rs41366344	1.00[EUR][1000 genomes]
rs41424051	1.00[EUR][1000 genomes]
rs41465848	1.00[EUR][1000 genomes]
rs41480548	1.00[EUR][1000 genomes]
rs4547740	1.00[EUR][1000 genomes]
rs56102061	1.00[EUR][1000 genomes]
rs57522944	1.00[EUR][1000 genomes]
rs59654809	1.00[EUR][1000 genomes]
rs61145486	1.00[EUR][1000 genomes]
rs6772596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6793690	1.00[EUR][1000 genomes]
rs6796282	1.00[EUR][1000 genomes]
rs753110	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:45990600-46017200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr3:45991200-46017400	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr3:45996200-46025400	Strong transcription	Liver	Liver
13	chr3:45999400-46018200	Strong transcription	Fetal Lung	lung
14	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:46002000-46014200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:46002200-46018600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr3:46002600-46027200	Weak transcription	A549	lung
19	chr3:46003600-46014800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr3:46007800-46024200	Weak transcription	Fetal Kidney	kidney
21	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
22	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
23	chr3:46009200-46017000	Weak transcription	Stomach Mucosa	stomach
24	chr3:46009600-46018000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr3:46010200-46016400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr3:46010200-46021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr3:46010200-46022600	Weak transcription	Brain Angular Gyrus	brain
28	chr3:46010200-46024200	Strong transcription	Left Ventricle	heart
29	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
30	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr3:46010600-46017400	Strong transcription	Fetal Muscle Leg	muscle
33	chr3:46010600-46020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr3:46010800-46022400	Weak transcription	Fetal Heart	heart
35	chr3:46011000-46016400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:46011400-46016000	Weak transcription	Colonic Mucosa	Colon
37	chr3:46011400-46016200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:46011400-46016200	Weak transcription	Brain Anterior Caudate	brain
39	chr3:46011400-46016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr3:46011400-46020800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:46011600-46016200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr3:46011800-46014200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:46011800-46014600	Weak transcription	Lung	lung
44	chr3:46011800-46015000	Weak transcription	Placenta	Placenta
45	chr3:46011800-46015200	Weak transcription	Gastric	stomach
46	chr3:46011800-46015800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:46011800-46016200	Weak transcription	Esophagus	oesophagus
48	chr3:46011800-46016200	Weak transcription	Spleen	Spleen
49	chr3:46012000-46014200	Weak transcription	Aorta	Aorta
50	chr3:46012000-46020800	Weak transcription	Ovary	ovary

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