Variant report

Variant	rs73933043
Chromosome Location	chr19:39175957-39175958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:39157029..39159931-chr19:39175100..39177737,2	K562	blood:
2	chr19:39173346..39178089-chr19:39336778..39344017,10	MCF-7	breast:
3	chr19:39113439..39116132-chr19:39174637..39176541,2	MCF-7	breast:
4	chr19:39175070..39177967-chr19:39221455..39223529,2	MCF-7	breast:
5	chr19:39174872..39176720-chr19:39177328..39180654,3	K562	blood:
6	chr19:39165775..39169288-chr19:39170285..39176842,12	K562	blood:
7	chr19:39173386..39176370-chr19:39183881..39186257,2	MCF-7	breast:
8	chr19:39174946..39178496-chr19:39224710..39227658,3	K562	blood:
9	chr19:39169983..39173495-chr19:39173704..39177059,4	K562	blood:
10	chr19:39173652..39177308-chr19:39222608..39229132,8	K562	blood:
11	chr19:39173657..39176403-chr19:39201609..39205956,8	MCF-7	breast:
12	chr19:39174048..39176701-chr19:39326836..39329387,2	MCF-7	breast:
13	chr19:39175021..39177149-chr19:39188221..39190892,2	MCF-7	breast:
14	chr19:39137341..39139996-chr19:39174350..39178473,5	K562	blood:
15	chr19:39151502..39153525-chr19:39175124..39177403,2	MCF-7	breast:
16	chr19:39137186..39142048-chr19:39173514..39178711,9	MCF-7	breast:
17	chr19:39175331..39177247-chr19:39341540..39343447,2	MCF-7	breast:
18	chr19:39173130..39177008-chr19:39180898..39185286,5	K562	blood:
19	chr19:39137008..39140489-chr19:39173171..39177881,5	K562	blood:
20	chr19:39174946..39176598-chr19:39326780..39328681,2	MCF-7	breast:
21	chr19:39173711..39176209-chr19:39338739..39340775,2	MCF-7	breast:
22	chr19:39175103..39177399-chr19:39212567..39214104,2	K562	blood:
23	chr19:39160838..39163402-chr19:39174691..39176835,2	MCF-7	breast:
24	chr19:39170783..39173793-chr19:39174469..39178078,4	MCF-7	breast:
25	chr19:39173691..39176634-chr19:39320748..39323238,2	MCF-7	breast:
26	chr19:39140411..39144509-chr19:39172304..39176724,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267892	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000182472	Chromatin interaction
ENSG00000267375	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000130402	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16972766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2403782	1.00[AMR][1000 genomes]
rs58568088	1.00[AMR][1000 genomes]
rs60860251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61411111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933051	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking 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	37 gene(s)	inside rSNPs	diseases
2	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39161200-39176000	Weak transcription	Fetal Brain Male	brain
2	chr19:39161200-39176000	Weak transcription	Fetal Brain Female	brain
3	chr19:39164400-39200200	Genic enhancers	Fetal Intestine Small	intestine
4	chr19:39164600-39178200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr19:39164800-39177600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr19:39164800-39179200	Enhancers	Pancreas	Pancrea
7	chr19:39164800-39179800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr19:39164800-39183800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr19:39165400-39178200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:39166000-39178200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:39167400-39180800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:39168400-39177400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:39169200-39181000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr19:39170000-39177400	Enhancers	Liver	Liver
15	chr19:39170000-39183400	Enhancers	Placenta	Placenta
16	chr19:39170200-39176800	Weak transcription	Thymus	Thymus
17	chr19:39170200-39177600	Enhancers	Primary hematopoietic stem cells	blood
18	chr19:39170200-39180000	Enhancers	Adipose Nuclei	Adipose
19	chr19:39171200-39176800	Genic enhancers	Fetal Muscle Leg	muscle
20	chr19:39171800-39178200	Enhancers	Psoas Muscle	Psoas
21	chr19:39172400-39178200	Enhancers	Left Ventricle	heart
22	chr19:39172400-39178200	Enhancers	Spleen	Spleen
23	chr19:39172800-39178000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr19:39173000-39177400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr19:39173000-39177400	Enhancers	Brain Anterior Caudate	brain
26	chr19:39173000-39177600	Enhancers	Esophagus	oesophagus
27	chr19:39173000-39177800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr19:39173000-39177800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:39173000-39178000	Enhancers	Fetal Thymus	thymus
30	chr19:39173000-39178000	Enhancers	Small Intestine	intestine
31	chr19:39173000-39178200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:39173000-39180200	Enhancers	NHDF-Ad	bronchial
33	chr19:39173200-39176800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:39173200-39177000	Genic enhancers	Fetal Stomach	stomach
35	chr19:39173200-39177400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr19:39173200-39177400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr19:39173200-39177600	Enhancers	Primary B cells from cord blood	blood
38	chr19:39173200-39178000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:39173200-39179800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:39173400-39176200	Enhancers	Colon Smooth Muscle	Colon
41	chr19:39173400-39176200	Enhancers	Fetal Muscle Trunk	muscle
42	chr19:39173400-39176200	Enhancers	HUVEC	blood vessel
43	chr19:39173400-39176400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr19:39173400-39176400	Enhancers	Brain Cingulate Gyrus	brain
45	chr19:39173400-39177400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:39173400-39177400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:39173400-39177400	Enhancers	Brain Substantia Nigra	brain
48	chr19:39173400-39177400	Enhancers	Fetal Lung	lung
49	chr19:39173400-39177600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr19:39173400-39177600	Enhancers	Brain Hippocampus Middle	brain

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