Variant report

Variant	rs231595
Chromosome Location	chr19:36214174-36214175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36039913..36041861-chr19:36213745..36215824,2	K562	blood:
2	chr19:36207379..36214815-chr19:36234227..36241330,25	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267796	Chromatin interaction
ENSG00000161265	Chromatin interaction
ENSG00000267439	Chromatin interaction
ENSG00000188223	Chromatin interaction
ENSG00000267120	Chromatin interaction
ENSG00000205155	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1262746	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262750	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1262751	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1268319	1.00[LWK][hapmap];0.83[MKK][hapmap]
rs179569	1.00[AMR][1000 genomes]
rs231215	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[AMR][1000 genomes]
rs231219	1.00[AMR][1000 genomes]
rs231220	1.00[AMR][1000 genomes]
rs231224	1.00[AMR][1000 genomes]
rs231239	1.00[AMR][1000 genomes]
rs231240	1.00[AMR][1000 genomes]
rs231587	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428145	1.00[AMR][1000 genomes]
rs2520310	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73931233	1.00[AMR][1000 genomes]
rs807490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
3	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911633	chr19:36206050-36283847	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911634	chr19:36206050-36290977	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
9	nsv543996	chr19:36210269-36265431	Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv1057830	chr19:36210269-36279794	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv543997	chr19:36210269-36279794	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36210400-36215400	Weak transcription	Psoas Muscle	Psoas
2	chr19:36210400-36215600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36210600-36214200	Weak transcription	NH-A	brain
4	chr19:36210600-36215400	Weak transcription	NHDF-Ad	bronchial
5	chr19:36210600-36222400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:36210600-36223000	Strong transcription	Fetal Lung	lung
7	chr19:36210600-36223000	Strong transcription	Rectal Smooth Muscle	rectum
8	chr19:36210600-36223400	Strong transcription	Primary T cells from cord blood	blood
9	chr19:36210600-36230000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr19:36210600-36230200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr19:36210600-36230200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr19:36210600-36230200	Strong transcription	Ovary	ovary
13	chr19:36210600-36230200	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:36210600-36230400	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr19:36210600-36230400	Strong transcription	A549	lung
16	chr19:36210600-36230600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:36210600-36230600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:36210600-36230600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:36210600-36230600	Weak transcription	Right Atrium	heart
20	chr19:36210600-36230600	Strong transcription	NHLF	lung
21	chr19:36210600-36231200	Weak transcription	Fetal Brain Male	brain
22	chr19:36210800-36214200	Genic enhancers	Primary T cells fromperipheralblood	blood
23	chr19:36210800-36215600	Weak transcription	Stomach Mucosa	stomach
24	chr19:36210800-36218600	Strong transcription	Brain Hippocampus Middle	brain
25	chr19:36210800-36221800	Strong transcription	NHEK	skin
26	chr19:36210800-36223600	Strong transcription	Colon Smooth Muscle	Colon
27	chr19:36210800-36225000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr19:36210800-36227400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:36210800-36228000	Strong transcription	Fetal Thymus	thymus
30	chr19:36210800-36229600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr19:36210800-36229800	Strong transcription	Adipose Nuclei	Adipose
32	chr19:36210800-36230000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:36210800-36230200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:36210800-36230200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr19:36210800-36230200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr19:36210800-36230200	Strong transcription	Fetal Intestine Large	intestine
37	chr19:36210800-36230200	Strong transcription	Gastric	stomach
38	chr19:36210800-36230200	Strong transcription	Thymus	Thymus
39	chr19:36210800-36230400	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr19:36210800-36230400	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr19:36210800-36230400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:36210800-36230400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:36210800-36230400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:36210800-36230400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr19:36210800-36230400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:36210800-36230400	Strong transcription	Brain Cingulate Gyrus	brain
47	chr19:36210800-36230400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr19:36210800-36230400	Strong transcription	Colonic Mucosa	Colon
49	chr19:36210800-36230600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr19:36210800-36231000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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