Variant report

Variant	rs16995885
Chromosome Location	chr19:19185638-19185639
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19174573..19176948-chr19:19185401..19187540,2	K562	blood:
2	chr19:19170269..19180034-chr19:19180145..19188109,15	K562	blood:

Variant related genes	Relation type
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11666234	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11667170	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11671014	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3826994	0.83[JPT][hapmap]
rs964132	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176200-19185800	Weak transcription	Ovary	ovary
3	chr19:19176200-19186000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr19:19176400-19186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr19:19176400-19189200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr19:19176400-19190400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr19:19176400-19190600	Weak transcription	Esophagus	oesophagus
8	chr19:19176400-19192600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr19:19176400-19192600	Weak transcription	Right Atrium	heart
10	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr19:19176400-19215800	Weak transcription	NHLF	lung
13	chr19:19176600-19186800	Weak transcription	Dnd41	blood
14	chr19:19176600-19187200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr19:19176600-19187400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:19176600-19188400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:19176600-19190200	Weak transcription	Fetal Kidney	kidney
18	chr19:19176600-19194400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr19:19176600-19206800	Weak transcription	Fetal Brain Female	brain
20	chr19:19176600-19207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:19177200-19204800	Weak transcription	Fetal Intestine Large	intestine
24	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
25	chr19:19178200-19187400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr19:19178400-19204800	Weak transcription	HepG2	liver
27	chr19:19178600-19198400	Weak transcription	Brain Substantia Nigra	brain
28	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:19180400-19186000	Weak transcription	Brain Anterior Caudate	brain
30	chr19:19180400-19186200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr19:19180400-19187200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr19:19180400-19187600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr19:19180400-19189400	Strong transcription	Fetal Stomach	stomach
34	chr19:19180400-19192200	Weak transcription	Placenta	Placenta
35	chr19:19180400-19192400	Weak transcription	Adipose Nuclei	Adipose
36	chr19:19180400-19192400	Weak transcription	Left Ventricle	heart
37	chr19:19180400-19194600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr19:19180400-19195800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
42	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
45	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
46	chr19:19180600-19188800	Weak transcription	Right Ventricle	heart
47	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
48	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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