Variant report

Variant	rs73038918
Chromosome Location	chr19:39202056-39202057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39189791..39192031-chr19:39202045..39204236,3	MCF-7	breast:
2	chr19:39200022..39202960-chr19:39340126..39342618,2	K562	blood:
3	chr19:39198023..39200060-chr19:39200428..39202731,2	K562	blood:
4	chr19:39125533..39130601-chr19:39201644..39207054,6	MCF-7	breast:
5	chr19:39177569..39179808-chr19:39201559..39205279,5	MCF-7	breast:
6	chr19:39201322..39204125-chr19:39215978..39220088,5	K562	blood:
7	chr19:39173657..39176403-chr19:39201609..39205956,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130402	Chromatin interaction
ENSG00000104824	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11553600	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12052046	1.00[ASN][1000 genomes]
rs17589415	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17665451	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41482151	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45468197	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616403	1.00[ASN][1000 genomes]
rs4802744	1.00[ASN][1000 genomes]
rs4802747	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802775	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67438539	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67953948	1.00[ASN][1000 genomes]
rs7258742	1.00[ASN][1000 genomes]
rs73032668	1.00[ASN][1000 genomes]
rs73032691	1.00[ASN][1000 genomes]
rs73032697	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034621	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038909	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038932	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73038936	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73038948	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7351086	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103824	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182484	0.88[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs888995	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv817834	chr19:39174332-39237950	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv911668	chr19:39174669-39291771	Genic enhancers Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	esv1826260	chr19:39178364-39248836	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	esv3329584	chr19:39196712-39204110	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv911669	chr19:39196745-39231548	Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr19:39179600-39205800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:39182200-39214200	Genic enhancers	Fetal Muscle Trunk	muscle
3	chr19:39182200-39225200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:39184800-39205800	Genic enhancers	A549	lung
5	chr19:39185200-39205800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr19:39186400-39213400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:39187200-39205800	Genic enhancers	Right Ventricle	heart
8	chr19:39189400-39223400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:39189800-39222800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr19:39190000-39203800	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr19:39190000-39205800	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:39190000-39208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:39190000-39218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:39190200-39222600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr19:39190200-39222800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr19:39190400-39206000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
17	chr19:39190400-39208400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:39190400-39209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:39190400-39212000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:39190400-39212200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:39190400-39217000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr19:39190400-39218000	Strong transcription	Primary T cells from cord blood	blood
23	chr19:39190400-39222400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:39190400-39222600	Strong transcription	Dnd41	blood
25	chr19:39190600-39202800	Strong transcription	GM12878-XiMat	blood
26	chr19:39190600-39203200	Strong transcription	K562	blood
27	chr19:39190600-39205400	Genic enhancers	Spleen	Spleen
28	chr19:39190600-39205600	Strong transcription	Fetal Brain Female	brain
29	chr19:39190600-39209000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:39190600-39209200	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr19:39190600-39216400	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr19:39190600-39217000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr19:39190600-39219600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr19:39190600-39222800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr19:39190800-39220400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:39190800-39222600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr19:39190800-39222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:39190800-39222800	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr19:39190800-39223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr19:39190800-39223000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:39191000-39203200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr19:39191000-39205800	Genic enhancers	Left Ventricle	heart
43	chr19:39191000-39222400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr19:39191000-39222600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr19:39191400-39205800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr19:39191400-39209400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:39191400-39218800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
48	chr19:39192400-39221200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:39192800-39202800	Strong transcription	Thymus	Thymus
50	chr19:39192800-39209600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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