Variant report

Variant	rs10416580
Chromosome Location	chr19:44241551-44241552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44233925..44236266-chr19:44240969..44243055,2	K562	blood:
2	chr19:44223544..44225405-chr19:44241319..44243805,2	MCF-7	breast:
3	chr19:44172017..44173924-chr19:44240856..44243312,2	K562	blood:
4	chr19:44233951..44238585-chr19:44239191..44244021,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105771	Chromatin interaction
ENSG00000011422	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10404922	0.93[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418355	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10423765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426756	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28483837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28544228	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4803656	0.81[LWK][hapmap];1.00[MKK][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61676505	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 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	chr19:44229400-44258000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:44231400-44256200	Strong transcription	Thymus	Thymus
3	chr19:44231400-44256400	Strong transcription	Fetal Stomach	stomach
4	chr19:44231600-44242800	Strong transcription	Fetal Intestine Small	intestine
5	chr19:44231600-44256200	Strong transcription	Stomach Smooth Muscle	stomach
6	chr19:44231800-44245400	Weak transcription	Right Atrium	heart
7	chr19:44232000-44243200	Strong transcription	Duodenum Mucosa	Duodenum
8	chr19:44232000-44256200	Strong transcription	Fetal Brain Female	brain
9	chr19:44232000-44256600	Strong transcription	Brain Cingulate Gyrus	brain
10	chr19:44232200-44241600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:44232200-44241800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr19:44232200-44243000	Strong transcription	Fetal Intestine Large	intestine
13	chr19:44232200-44243200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:44232200-44243200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:44232200-44243200	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr19:44232200-44248800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr19:44232200-44248800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:44232200-44253800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:44232200-44255600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr19:44232200-44256200	Strong transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:44232200-44256600	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr19:44232200-44256600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:44232200-44256600	Strong transcription	Fetal Lung	lung
24	chr19:44232200-44257200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:44232400-44246600	Strong transcription	Brain Substantia Nigra	brain
26	chr19:44232400-44251600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:44232400-44254600	Strong transcription	Fetal Thymus	thymus
28	chr19:44232400-44255600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr19:44232400-44256200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:44232400-44257000	Strong transcription	Primary T cells from cord blood	blood
31	chr19:44232600-44242000	Strong transcription	A549	lung
32	chr19:44232600-44242800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:44232600-44243400	Strong transcription	HMEC	breast
34	chr19:44232600-44249200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:44232600-44249200	Strong transcription	Liver	Liver
36	chr19:44232800-44241800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:44232800-44243000	Strong transcription	NHEK	skin
38	chr19:44232800-44243200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:44232800-44243200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:44232800-44246800	Strong transcription	Osteobl	bone
41	chr19:44232800-44255800	Strong transcription	Dnd41	blood
42	chr19:44232800-44256000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr19:44232800-44256400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:44232800-44256400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:44233200-44256000	Strong transcription	Lung	lung
46	chr19:44234200-44255000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr19:44234400-44242400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr19:44234400-44243400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr19:44234400-44246800	Strong transcription	NH-A	brain
50	chr19:44234400-44249200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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