Variant report

Variant	rs1268319
Chromosome Location	chr19:36227230-36227231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:36227227-36228256	GM12891	blood:	n/a	n/a
2	POLR2A	chr19:36227197-36234067	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:36227116-36234243	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36118469..36120275-chr19:36226530..36228193,2	K562	blood:
2	chr19:36205476..36213390-chr19:36226310..36233646,27	MCF-7	breast:

Variant related genes	Relation type
KMT2B	TF binding region
ENSG00000126254	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11878547	1.00[MEX][hapmap]
rs11880785	1.00[MEX][hapmap]
rs1262746	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1262750	1.00[YRI][hapmap]
rs1802029	1.00[MEX][hapmap]
rs230261	1.00[MEX][hapmap]
rs231215	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs231219	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs231220	0.87[AFR][1000 genomes]
rs231239	0.88[AFR][1000 genomes]
rs231240	0.87[AFR][1000 genomes]
rs231595	1.00[LWK][hapmap];0.83[MKK][hapmap]
rs2520310	1.00[YRI][hapmap]
rs7254113	1.00[MEX][hapmap]
rs8106495	1.00[MEX][hapmap]
rs8110231	1.00[MEX][hapmap]
rs8113524	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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
12	nsv911635	chr19:36217333-36283847	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv515536	chr19:36219525-36240960	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
14	nsv458567	chr19:36221051-36283847	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
15	nsv579423	chr19:36221051-36283847	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 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	chr19:36210600-36230000	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:36210600-36230200	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr19:36210600-36230200	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:36210600-36230200	Strong transcription	Ovary	ovary
5	chr19:36210600-36230200	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:36210600-36230400	Strong transcription	Brain Inferior Temporal Lobe	brain
7	chr19:36210600-36230400	Strong transcription	A549	lung
8	chr19:36210600-36230600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr19:36210600-36230600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:36210600-36230600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:36210600-36230600	Weak transcription	Right Atrium	heart
12	chr19:36210600-36230600	Strong transcription	NHLF	lung
13	chr19:36210600-36231200	Weak transcription	Fetal Brain Male	brain
14	chr19:36210800-36227400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:36210800-36228000	Strong transcription	Fetal Thymus	thymus
16	chr19:36210800-36229600	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr19:36210800-36229800	Strong transcription	Adipose Nuclei	Adipose
18	chr19:36210800-36230000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:36210800-36230200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:36210800-36230200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr19:36210800-36230200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr19:36210800-36230200	Strong transcription	Fetal Intestine Large	intestine
23	chr19:36210800-36230200	Strong transcription	Gastric	stomach
24	chr19:36210800-36230200	Strong transcription	Thymus	Thymus
25	chr19:36210800-36230400	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr19:36210800-36230400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr19:36210800-36230400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr19:36210800-36230400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr19:36210800-36230400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:36210800-36230400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:36210800-36230400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:36210800-36230400	Strong transcription	Brain Cingulate Gyrus	brain
33	chr19:36210800-36230400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:36210800-36230400	Strong transcription	Colonic Mucosa	Colon
35	chr19:36210800-36230600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:36210800-36231000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr19:36211000-36227600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr19:36211000-36230000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:36211000-36230000	Strong transcription	Left Ventricle	heart
40	chr19:36211000-36230200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr19:36211000-36230200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:36211000-36230200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr19:36211000-36230200	Strong transcription	Osteobl	bone
44	chr19:36211000-36230400	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:36211000-36230400	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr19:36211000-36230400	Strong transcription	Fetal Muscle Leg	muscle
47	chr19:36211000-36230400	Strong transcription	Lung	lung
48	chr19:36211000-36230600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:36211000-36230600	Strong transcription	Brain Germinal Matrix	brain
50	chr19:36211200-36228000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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