Variant report

Variant	rs73930655
Chromosome Location	chr19:40336450-40336451
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40336233..40337167-chr6:26596570..26597367,2	HCT-116	colon:
2	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
3	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
4	chr14:61447351..61448029-chr19:40336255..40336824,2	Hela-S3	cervix:
5	chr19:40336410..40337154-chr2:85822880..85823462,2	Hela-S3	cervix:
6	chr19:40322842..40325581-chr19:40335629..40338491,6	MCF-7	breast:
7	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
8	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
9	chr19:40336042..40336909-chr20:47895114..47895616,2	Hela-S3	cervix:
10	chr19:39926041..39928299-chr19:40334872..40337810,2	MCF-7	breast:
11	chr19:40021563..40023552-chr19:40334495..40337354,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126814	Chromatin interaction
ENSG00000176401	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000139974	Chromatin interaction
ENSG00000168894	Chromatin interaction
ENSG00000146109	Chromatin interaction
ENSG00000269792	Chromatin interaction
ENSG00000177410	Chromatin interaction
ENSG00000105204	Chromatin interaction
ENSG00000196235	Chromatin interaction
ENSG00000209042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs55651210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55722236	1.00[AMR][1000 genomes]
rs59886986	1.00[AMR][1000 genomes]
rs73930661	1.00[AMR][1000 genomes]
rs73930665	1.00[AMR][1000 genomes]
rs73930666	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	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	nsv911696	chr19:40310497-40344648	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40333400-40336600	Enhancers	Spleen	Spleen
2	chr19:40334800-40336600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr19:40334800-40337200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr19:40334800-40337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:40335000-40337200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:40335200-40336600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr19:40335200-40336600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr19:40335200-40336600	Flanking Active TSS	HUVEC	blood vessel
9	chr19:40335200-40336800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr19:40335400-40336600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:40335400-40336600	Flanking Active TSS	Rectal Smooth Muscle	rectum
12	chr19:40335400-40337200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:40335400-40337400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:40335400-40337400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr19:40335400-40337600	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr19:40335400-40337600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:40335600-40336600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:40335600-40336600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr19:40335600-40336600	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr19:40335600-40336600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:40335600-40336600	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr19:40335600-40336600	Flanking Active TSS	Fetal Muscle Trunk	muscle
23	chr19:40335600-40336600	Flanking Active TSS	Fetal Thymus	thymus
24	chr19:40335600-40336600	Flanking Active TSS	Pancreas	Pancrea
25	chr19:40335600-40336600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr19:40335600-40336600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:40335600-40336600	Flanking Active TSS	Osteobl	bone
28	chr19:40335600-40336800	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr19:40335600-40336800	Flanking Active TSS	Thymus	Thymus
30	chr19:40335600-40337000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:40335600-40337400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr19:40335600-40337600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr19:40335600-40337600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr19:40335800-40336600	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr19:40335800-40336600	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr19:40335800-40336600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr19:40335800-40336800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr19:40335800-40336800	Flanking Active TSS	Fetal Brain Male	brain
39	chr19:40335800-40337200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr19:40335800-40337200	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr19:40335800-40337200	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr19:40335800-40337200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:40335800-40337200	Active TSS	GM12878-XiMat	blood
44	chr19:40335800-40337200	Active TSS	NHDF-Ad	bronchial
45	chr19:40335800-40337200	Active TSS	NHLF	lung
46	chr19:40335800-40337400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:40335800-40337400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:40335800-40337600	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr19:40335800-40337600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr19:40335800-40337800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood

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