Variant report

Variant	rs72698317
Chromosome Location	chr9:19121572-19121573
allele	A/T
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	chr9:19117804-19125720	HepG2	liver:	n/a	n/a
2	POLR2A	chr9:19121481-19123783	HepG2	liver:	n/a	n/a
3	POLR2A	chr9:19112387-19127891	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:19115548-19121870	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:19112585-19128688	PBDE	blood:	n/a	n/a
6	POLR2A	chr9:19120853-19121812	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:19120696-19121750	HepG2	liver:	n/a	n/a
8	HEY1	chr9:19117848-19127999	HepG2	liver:	n/a	chr9:19127726-19127741 chr9:19127724-19127739 chr9:19127361-19127376

No.	Distal block	Cell Line	Cell type
1	chr9:19101008..19104571-chr9:19119588..19122820,3	MCF-7	breast:
2	chr9:19121135..19123486-chr9:19230568..19232351,2	K562	blood:
3	chr9:19120570..19124590-chr9:19125970..19130053,4	MCF-7	breast:

Variant related genes	Relation type
PLIN2	TF binding region
ENSG00000147874	Chromatin interaction
ENSG00000147872	Chromatin interaction
ENSG00000137145	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs72694600	1.00[AMR][1000 genomes]
rs72694601	1.00[AMR][1000 genomes]
rs72696437	1.00[AMR][1000 genomes]
rs72696475	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017820	chr9:18882219-19587377	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
2	nsv540078	chr9:18882219-19587377	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv892700	chr9:18979441-19156784	Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1028623	chr9:19034742-19394712	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv540079	chr9:19034742-19394712	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv430003	chr9:19074740-19247826	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv870340	chr9:19077714-19143230	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv1018947	chr9:19094894-19394712	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
9	nsv1033552	chr9:19104662-19131866	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:19103400-19126400	Weak transcription	Fetal Brain Male	brain
2	chr9:19110600-19126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:19112000-19122800	Strong transcription	Primary T cells from cord blood	blood
4	chr9:19113400-19122400	Enhancers	Hela-S3	cervix
5	chr9:19113400-19124400	Strong transcription	Fetal Stomach	stomach
6	chr9:19113400-19126200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:19113800-19124200	Strong transcription	Fetal Muscle Leg	muscle
8	chr9:19114000-19121600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:19114000-19122000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr9:19114000-19122400	Strong transcription	Primary T helper cells PMA-I stimulated	--
11	chr9:19114000-19122800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr9:19114000-19123000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:19114000-19123000	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr9:19114000-19124200	Strong transcription	Fetal Intestine Large	intestine
15	chr9:19114000-19124800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr9:19114000-19126000	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr9:19114200-19122400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:19114200-19124200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr9:19114200-19124800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:19114200-19126200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:19114400-19123200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr9:19114400-19124000	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr9:19114400-19124000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:19114600-19122200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr9:19114600-19123600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:19114600-19123600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr9:19114600-19123600	Strong transcription	Spleen	Spleen
28	chr9:19114800-19123400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr9:19114800-19123600	Strong transcription	Brain Substantia Nigra	brain
30	chr9:19114800-19123600	Strong transcription	Fetal Thymus	thymus
31	chr9:19114800-19124800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:19114800-19126000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr9:19114800-19126000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr9:19115000-19121600	Strong transcription	Brain Cingulate Gyrus	brain
35	chr9:19115000-19121600	Strong transcription	Thymus	Thymus
36	chr9:19115000-19123000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr9:19115000-19123400	Strong transcription	Dnd41	blood
38	chr9:19115000-19123800	Strong transcription	Fetal Kidney	kidney
39	chr9:19115000-19124200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr9:19115000-19125200	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr9:19115200-19124000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:19115600-19121600	Strong transcription	Ovary	ovary
43	chr9:19115600-19121800	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr9:19115600-19123000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr9:19115600-19123600	Strong transcription	Fetal Lung	lung
46	chr9:19115600-19123600	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr9:19115800-19121800	Strong transcription	Gastric	stomach
48	chr9:19115800-19122800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:19115800-19124200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:19116000-19123000	Strong transcription	Brain Hippocampus Middle	brain

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