Variant report

Variant	rs73083214
Chromosome Location	chr3:195931605-195931606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:195793504..195812987-chr3:195901613..195938073,113	K562	blood:
2	chr3:195786462..195788147-chr3:195930755..195932479,2	K562	blood:
3	chr3:195804970..195807492-chr3:195930599..195932477,2	K562	blood:

Variant related genes	Relation type
ENSG00000252174	Chromatin interaction
ENSG00000072274	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs56911964	1.00[EUR][1000 genomes]
rs58700777	1.00[EUR][1000 genomes]
rs58864991	1.00[EUR][1000 genomes]
rs59710182	1.00[EUR][1000 genomes]
rs59713295	1.00[EUR][1000 genomes]
rs60648170	1.00[EUR][1000 genomes]
rs61056092	1.00[EUR][1000 genomes]
rs61099590	1.00[EUR][1000 genomes]
rs61274928	1.00[EUR][1000 genomes]
rs6770976	1.00[EUR][1000 genomes]
rs6810012	1.00[EUR][1000 genomes]
rs73074940	1.00[EUR][1000 genomes]
rs73074942	1.00[EUR][1000 genomes]
rs73074955	1.00[EUR][1000 genomes]
rs73074956	1.00[EUR][1000 genomes]
rs73077031	1.00[EUR][1000 genomes]
rs73077038	1.00[EUR][1000 genomes]
rs73077068	1.00[EUR][1000 genomes]
rs73077071	1.00[EUR][1000 genomes]
rs73083213	1.00[EUR][1000 genomes]
rs73083217	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73083229	1.00[AMR][1000 genomes]
rs73083235	1.00[EUR][1000 genomes]
rs73083237	1.00[EUR][1000 genomes]
rs73083239	1.00[EUR][1000 genomes]
rs73083243	1.00[EUR][1000 genomes]
rs73083244	1.00[EUR][1000 genomes]
rs73084675	1.00[EUR][1000 genomes]
rs73086605	1.00[EUR][1000 genomes]
rs73086612	1.00[EUR][1000 genomes]
rs73086630	1.00[EUR][1000 genomes]
rs73086658	1.00[EUR][1000 genomes]
rs73086659	1.00[EUR][1000 genomes]
rs73086666	1.00[EUR][1000 genomes]
rs73086670	1.00[EUR][1000 genomes]
rs73086675	1.00[EUR][1000 genomes]
rs73088704	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
6	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
8	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
13	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
15	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
16	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer 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
17	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
18	nsv878175	chr3:195907653-195973244	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1014159	chr3:195908999-195968512	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	esv32936	chr3:195916045-195940827	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv878176	chr3:195926234-195959924	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
22	nsv878177	chr3:195929268-195949541	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195921600-195934000	Weak transcription	Right Atrium	heart
2	chr3:195922000-195934200	Weak transcription	Right Ventricle	heart
3	chr3:195923800-195934200	Weak transcription	Thymus	Thymus
4	chr3:195929000-195932000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:195929600-195933600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:195929800-195932200	Weak transcription	K562	blood
7	chr3:195929800-195933800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:195929800-195933800	Weak transcription	Gastric	stomach
9	chr3:195929800-195934000	Weak transcription	Ovary	ovary
10	chr3:195930200-195933800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr3:195930400-195934000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr3:195930600-195934000	Weak transcription	Esophagus	oesophagus
13	chr3:195930800-195932200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr3:195930800-195933800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:195930800-195933800	Weak transcription	Placenta	Placenta
16	chr3:195930800-195933800	Weak transcription	Spleen	Spleen
17	chr3:195930800-195934000	Weak transcription	Brain Anterior Caudate	brain
18	chr3:195931000-195933600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:195931000-195933800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:195931000-195933800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:195931200-195932200	Weak transcription	GM12878-XiMat	blood
22	chr3:195931400-195931800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr3:195931600-195933800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:195931600-195934000	Weak transcription	Primary B cells from cord blood	blood

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