Variant report

Variant	rs7249693
Chromosome Location	chr19:55764935-55764936
allele	C/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55764902..55773441-chr19:55891413..55900303,21	K562	blood:
2	chr19:55763551..55774813-chr19:55891413..55900376,23	K562	blood:
3	chr19:55764819..55766373-chr19:55782092..55783886,2	K562	blood:
4	chr19:55725913..55730047-chr19:55761306..55765078,5	K562	blood:
5	chr19:55720878..55730679-chr19:55764402..55774570,47	K562	blood:
6	chr19:55731260..55733496-chr19:55763149..55766081,2	K562	blood:
7	chr19:55761360..55765819-chr19:55917295..55921278,6	K562	blood:
8	chr19:55764275..55774774-chr19:55790059..55800763,24	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108107	Chromatin interaction
ENSG00000267649	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000233493	Chromatin interaction
ENSG00000108106	Chromatin interaction
ENSG00000160469	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11880346	1.00[EUR][1000 genomes]
rs28682430	1.00[EUR][1000 genomes]
rs61737174	1.00[EUR][1000 genomes]
rs7256938	0.87[AFR][1000 genomes]
rs7507792	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription 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	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 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	chr19:55729400-55766200	Weak transcription	Fetal Brain Male	brain
2	chr19:55740400-55766000	Strong transcription	Fetal Stomach	stomach
3	chr19:55750800-55767000	Weak transcription	HSMM	muscle
4	chr19:55754400-55765200	Weak transcription	Psoas Muscle	Psoas
5	chr19:55756000-55766400	Weak transcription	Small Intestine	intestine
6	chr19:55756400-55766600	Weak transcription	Fetal Kidney	kidney
7	chr19:55757000-55766200	Weak transcription	NHDF-Ad	bronchial
8	chr19:55757400-55767400	Weak transcription	Fetal Lung	lung
9	chr19:55757600-55767200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr19:55757600-55767600	Weak transcription	HSMMtube	muscle
11	chr19:55757600-55768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:55758000-55768200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:55758200-55765200	Genic enhancers	Gastric	stomach
14	chr19:55758400-55765200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:55758400-55765400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:55758400-55766200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:55758400-55767400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:55758400-55767600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr19:55758400-55769000	Weak transcription	Aorta	Aorta
20	chr19:55758600-55765200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr19:55758600-55765800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:55758800-55765000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr19:55758800-55766200	Weak transcription	NHLF	lung
24	chr19:55758800-55767600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:55759400-55767200	Enhancers	Stomach Mucosa	stomach
26	chr19:55759600-55768200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:55760000-55766600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:55760400-55765200	Weak transcription	Brain Angular Gyrus	brain
29	chr19:55760400-55765400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:55760400-55766800	Weak transcription	Fetal Heart	heart
31	chr19:55760400-55766800	Weak transcription	HMEC	breast
32	chr19:55760400-55768600	Weak transcription	Ovary	ovary
33	chr19:55760800-55766000	Strong transcription	Fetal Intestine Small	intestine
34	chr19:55761600-55765600	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr19:55761600-55766200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:55762600-55765400	Enhancers	HUVEC	blood vessel
37	chr19:55762800-55765200	Enhancers	Adipose Nuclei	Adipose
38	chr19:55762800-55765200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr19:55763000-55765000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr19:55763200-55765000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr19:55763200-55765000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr19:55763200-55765200	Weak transcription	Right Atrium	heart
43	chr19:55763200-55765600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:55763200-55766400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:55763400-55765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr19:55763400-55765000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr19:55763400-55765200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:55763400-55765200	Weak transcription	Fetal Intestine Large	intestine
49	chr19:55763400-55765200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:55763400-55765400	Weak transcription	Rectal Mucosa Donor 31	rectum

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