Variant report

Variant	rs73554429
Chromosome Location	chr19:40354178-40354179
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40337126..40339206-chr19:40352976..40355937,2	K562	blood:
2	chr19:40333922..40335627-chr19:40352940..40355252,2	K562	blood:
3	chr19:40351689..40354731-chr19:40355566..40357616,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56806809	1.00[EUR][1000 genomes]
rs57602917	1.00[EUR][1000 genomes]
rs57766389	1.00[EUR][1000 genomes]
rs57994656	1.00[EUR][1000 genomes]
rs58047685	1.00[EUR][1000 genomes]
rs58100423	1.00[EUR][1000 genomes]
rs59342345	1.00[EUR][1000 genomes]
rs59443476	1.00[EUR][1000 genomes]
rs60369807	1.00[EUR][1000 genomes]
rs61061023	1.00[EUR][1000 genomes]
rs73548515	1.00[EUR][1000 genomes]
rs73550482	1.00[EUR][1000 genomes]
rs73550487	1.00[EUR][1000 genomes]
rs73550494	1.00[EUR][1000 genomes]
rs73554434	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73554436	0.93[AFR][1000 genomes]
rs73554442	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73554444	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73554445	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73554463	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73558346	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1846322	chr19:40350730-40404261	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1851593	chr19:40353368-40405115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv482218	chr19:40353963-40440533	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1846009	chr19:40353983-40410533	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349400-40354400	Weak transcription	Colonic Mucosa	Colon
2	chr19:40349800-40356000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr19:40349800-40357400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
5	chr19:40350400-40372200	Weak transcription	Dnd41	blood
6	chr19:40350600-40365200	Weak transcription	Placenta	Placenta
7	chr19:40351000-40361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:40351600-40357200	Weak transcription	Primary B cells from cord blood	blood
9	chr19:40352000-40357000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:40352000-40357200	Weak transcription	Fetal Muscle Leg	muscle
11	chr19:40352000-40363200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr19:40352000-40364200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr19:40352000-40372600	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr19:40352200-40356400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr19:40352400-40372400	Weak transcription	Fetal Intestine Large	intestine
16	chr19:40352600-40364000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:40352800-40360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr19:40352800-40360600	Weak transcription	Spleen	Spleen
19	chr19:40353200-40354200	Weak transcription	Gastric	stomach
20	chr19:40353400-40354600	Strong transcription	Fetal Intestine Small	intestine
21	chr19:40353400-40354600	Strong transcription	Stomach Mucosa	stomach
22	chr19:40353400-40354800	Strong transcription	Fetal Stomach	stomach
23	chr19:40353400-40366000	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr19:40353600-40355000	Strong transcription	Primary T cells from cord blood	blood
25	chr19:40353600-40360000	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr19:40353800-40354600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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