Variant report

Variant	rs803073
Chromosome Location	chr7:101928279-101928280
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	TCF3	chr7:101928173-101928488	GM12878	blood:	n/a	chr7:101928322-101928336
2	SPI1	chr7:101928172-101928652	HL-60	blood:	n/a	chr7:101928571-101928584
3	POLR2A	chr7:101928051-101928695	HepG2	liver:	n/a	n/a
4	EGR1	chr7:101928171-101928518	K562	blood:	n/a	chr7:101928351-101928365 chr7:101928345-101928358 chr7:101928344-101928359
5	CREB1	chr7:101927713-101928451	GM12878	blood:	n/a	chr7:101927826-101927839
6	POLR2A	chr7:101927925-101928310	GM12878	blood:	n/a	n/a
7	RCOR1	chr7:101928246-101928542	K562	blood:	n/a	n/a
8	RUNX3	chr7:101927573-101928519	GM12878	blood:	n/a	n/a
9	MAZ	chr7:101928224-101928495	K562	blood:	n/a	n/a
10	MTA3	chr7:101927680-101928766	GM12878	blood:	n/a	n/a
11	ELF1	chr7:101927656-101928940	GM12878	blood:	n/a	n/a
12	ZBTB7A	chr7:101928153-101928429	K562	blood:	n/a	n/a
13	STAT5A	chr7:101927674-101928674	GM12878	blood:	n/a	chr7:101928647-101928659 chr7:101928437-101928445 chr7:101928289-101928297
14	POLR2A	chr7:101928147-101930057	SK-N-MC	brain:	n/a	n/a
15	SPI1	chr7:101928238-101928530	K562	blood:	n/a	n/a
16	SPI1	chr7:101928146-101928695	HL-60	blood:	n/a	chr7:101928571-101928584 chr7:101928650-101928663
17	EGR1	chr7:101928213-101928450	GM12878	blood:	n/a	chr7:101928351-101928365 chr7:101928345-101928358 chr7:101928344-101928359
18	TEAD4	chr7:101928137-101928558	K562	blood:	n/a	n/a
19	CHD2	chr7:101927818-101928400	GM12878	blood:	n/a	n/a
20	MAZ	chr7:101927740-101928502	GM12878	blood:	n/a	chr7:101927899-101927909
21	ZNF143	chr7:101927773-101928415	GM12878	blood:	n/a	chr7:101927887-101927906
22	POLR2A	chr7:101927777-101935499	GM18505	blood:	n/a	n/a
23	EGR1	chr7:101928216-101928464	GM12878	blood:	n/a	chr7:101928351-101928365 chr7:101928345-101928358 chr7:101928344-101928359
24	POLR2A	chr7:101927805-101930433	MCF10A-Er-Src	breast:	n/a	n/a
25	PML	chr7:101928125-101928969	GM12878	blood:	n/a	n/a
26	TCF12	chr7:101927665-101928416	GM12878	blood:	n/a	chr7:101928258-101928268
27	POLR2A	chr7:101927816-101934148	Raji	blood:	n/a	n/a
28	RUNX3	chr7:101928215-101928643	GM12878	blood:	n/a	n/a
29	POLR2A	chr7:101928158-101928488	K562	blood:	n/a	n/a
30	POLR2A	chr7:101928050-101928560	Hela-S3	cervix:	n/a	n/a
31	EGR1	chr7:101928150-101928535	K562	blood:	n/a	chr7:101928351-101928365 chr7:101928345-101928358 chr7:101928344-101928359

No.	Distal block	Cell Line	Cell type
1	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
2	chr7:101927893..101931251-chr7:102072337..102075849,4	MCF-7	breast:
3	chr7:101914536..101919891-chr7:101927361..101932016,8	MCF-7	breast:
4	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
5	chr7:101912928..101918938-chr7:101926951..101931541,5	K562	blood:
6	chr7:101928063..101931419-chr7:102036448..102039604,3	K562	blood:
7	chr7:101927301..101930290-chr7:102022735..102024275,2	MCF-7	breast:
8	chr7:101927779..101934386-chr7:102001430..102005829,12	MCF-7	breast:
9	chr17:56708217..56709743-chr7:101928266..101930039,2	MCF-7	breast:
10	chr7:101926103..101929302-chr7:102034428..102037305,4	K562	blood:

Variant related genes	Relation type
SH2B2	TF binding region
ENSG00000128563	Chromatin interaction
ENSG00000239969	Chromatin interaction
ENSG00000239480	Chromatin interaction
ENSG00000239486	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000257923	Chromatin interaction
ENSG00000160991	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs813001	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464662	chr7:101912320-101949128	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv464663	chr7:101912320-101949128	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv607996	chr7:101912320-101949128	Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv607997	chr7:101912320-101949128	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	24 gene(s)	inside rSNPs	diseases
5	esv2758126	chr7:101912320-102005026	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	esv2759548	chr7:101912320-102005026	Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
7	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
10	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
11	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
12	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
14	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
16	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
17	esv1822373	chr7:101913187-101969458	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
18	nsv888828	chr7:101921289-101939759	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	23 gene(s)	inside rSNPs	diseases
19	nsv888829	chr7:101926788-101946385	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
20	nsv888830	chr7:101926788-101957518	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs803073	POLR2J2	cis	Liver	GTEx
rs803073	NM_032959	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101892800-101928400	Weak transcription	Right Ventricle	heart
2	chr7:101908000-101929200	Weak transcription	Gastric	stomach
3	chr7:101910200-101928400	Weak transcription	Liver	Liver
4	chr7:101915800-101929000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:101917400-101929400	Weak transcription	HMEC	breast
6	chr7:101918800-101929000	Weak transcription	Stomach Mucosa	stomach
7	chr7:101923200-101928400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:101923200-101928400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:101923200-101928400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:101923200-101928400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:101923200-101928400	Weak transcription	Fetal Intestine Large	intestine
12	chr7:101923200-101929200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:101923200-101929200	Weak transcription	A549	lung
14	chr7:101923200-101929400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:101923400-101928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:101923400-101928400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:101923400-101928400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr7:101923400-101928400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:101923400-101928400	Weak transcription	Right Atrium	heart
20	chr7:101923400-101928600	Weak transcription	Fetal Brain Female	brain
21	chr7:101923400-101928800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:101923400-101929000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:101923400-101929400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:101923600-101928400	Weak transcription	Brain Germinal Matrix	brain
25	chr7:101924800-101928400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr7:101925800-101929200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:101927000-101928400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:101927000-101928600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:101927200-101928600	Weak transcription	HepG2	liver
30	chr7:101927400-101928400	Enhancers	Primary hematopoietic stem cells	blood
31	chr7:101927400-101928600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:101927400-101928600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr7:101927400-101929200	Weak transcription	Fetal Intestine Small	intestine
34	chr7:101927600-101929200	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr7:101927800-101928400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr7:101927800-101928400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr7:101927800-101928400	Enhancers	Placenta	Placenta
38	chr7:101927800-101928400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr7:101927800-101928400	Enhancers	Spleen	Spleen
40	chr7:101927800-101928600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr7:101927800-101928800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr7:101927800-101929000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr7:101927800-101929200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:101927800-101929200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:101927800-101929200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr7:101927800-101929200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr7:101927800-101929200	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:101927800-101929400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr7:101927800-101929400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr7:101927800-101929600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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