Variant report

Variant	rs10022012
Chromosome Location	chr4:9693182-9693183
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	SIN3A	chr4:9692776-9693307	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr4:9693154-9693419	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:9693153-9693576	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:9693180-9693504	MCF10A-Er-Src	breast:	n/a	n/a
5	TAF1	chr4:9692779-9693489	HepG2	liver:	n/a	n/a
6	POLR2A	chr4:9692444-9693955	H1-hESC	embryonic stem cell:	n/a	n/a
7	HEY1	chr4:9693099-9693390	K562	blood:	n/a	n/a
8	PAX5	chr4:9693118-9693360	GM12878	blood:	n/a	n/a
9	TCF12	chr4:9693178-9693459	HepG2	liver:	n/a	n/a
10	FOSL2	chr4:9692704-9693719	HepG2	liver:	n/a	chr4:9693096-9693105 chr4:9693486-9693495
11	POLR2A	chr4:9693143-9693372	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:9692821-9693376	H1-hESC	embryonic stem cell:	n/a	n/a
13	JUND	chr4:9693144-9693343	HepG2	liver:	n/a	n/a
14	E2F4	chr4:9693051-9693730	MCF10A-Er-Src	breast:	n/a	chr4:9693160-9693170 chr4:9693095-9693104 chr4:9693599-9693608
15	BHLHE40	chr4:9693135-9693538	HepG2	liver:	n/a	chr4:9693155-9693171
16	POLR2A	chr4:9693016-9693548	PFSK-1	brain:	n/a	n/a
17	JUND	chr4:9692889-9693351	H1-hESC	embryonic stem cell:	n/a	chr4:9693096-9693105
18	IRF1	chr4:9693168-9693657	K562	blood:	n/a	chr4:9693584-9693598 chr4:9693481-9693495 chr4:9693595-9693609 chr4:9693400-9693414
19	SP4	chr4:9693053-9693284	H1-hESC	embryonic stem cell:	n/a	chr4:9693251-9693262
20	POLR2A	chr4:9693140-9693435	A549	lung:	n/a	n/a
21	FOXP2	chr4:9693149-9693652	PFSK-1	brain:	n/a	n/a
22	TBP	chr4:9692926-9693444	H1-hESC	embryonic stem cell:	n/a	n/a
23	SP1	chr4:9692106-9693756	HepG2	liver:	n/a	chr4:9693094-9693108 chr4:9693126-9693136 chr4:9693504-9693516 chr4:9693598-9693612 chr4:9693586-9693598 chr4:9693095-9693104 chr4:9693152-9693161 chr4:9693597-9693609 chr4:9693094-9693103 chr4:9693586-9693598 chr4:9693251-9693262 chr4:9693403-9693417 chr4:9693505-9693514 chr4:9693151-9693163 chr4:9693163-9693175 chr4:9693307-9693318 chr4:9693164-9693173 chr4:9693587-9693596 chr4:9693588-9693597 chr4:9693402-9693414 chr4:9693504-9693516 chr4:9693598-9693607 chr4:9693093-9693105 chr4:9693126-9693135 chr4:9693587-9693596 chr4:9693093-9693105 chr4:9693151-9693163 chr4:9693599-9693608 chr4:9693597-9693609
24	USF1	chr4:9693159-9693340	HepG2	liver:	n/a	n/a
25	POU2F2	chr4:9692821-9693452	GM12878	blood:	n/a	n/a
26	POLR2A	chr4:9692956-9693483	A549	lung:	n/a	n/a
27	RXRA	chr4:9692642-9693414	HepG2	liver:	n/a	chr4:9693076-9693090
28	POLR2A	chr4:9693108-9693407	A549	lung:	n/a	n/a
29	SP1	chr4:9692953-9693618	H1-hESC	embryonic stem cell:	n/a	chr4:9693094-9693108 chr4:9693126-9693136 chr4:9693504-9693516 chr4:9693598-9693612 chr4:9693586-9693598 chr4:9693095-9693104 chr4:9693152-9693161 chr4:9693597-9693609 chr4:9693094-9693103 chr4:9693586-9693598 chr4:9693251-9693262 chr4:9693403-9693417 chr4:9693505-9693514 chr4:9693151-9693163 chr4:9693163-9693175 chr4:9693307-9693318 chr4:9693164-9693173 chr4:9693587-9693596 chr4:9693588-9693597 chr4:9693402-9693414 chr4:9693504-9693516 chr4:9693598-9693607 chr4:9693093-9693105 chr4:9693126-9693135 chr4:9693587-9693596 chr4:9693093-9693105 chr4:9693151-9693163 chr4:9693599-9693608 chr4:9693597-9693609
30	TCF3	chr4:9693172-9693571	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:9693116-9693449	A549	lung:	n/a	n/a
32	POLR2A	chr4:9693091-9693488	GM12878	blood:	n/a	n/a
33	TAF1	chr4:9692611-9693440	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr4:9693136-9693340	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr4:9693139-9693630	HepG2	liver:	n/a	n/a
36	POLR2A	chr4:9693112-9693348	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr4:9692428-9693681	K562	blood:	n/a	n/a
38	POLR2A	chr4:9692928-9693343	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:9693142-9693255	H1-hESC	embryonic stem cell:	n/a	n/a
40	PAX5	chr4:9692795-9693485	GM12878	blood:	n/a	chr4:9693092-9693111
41	HEY1	chr4:9692165-9693617	HepG2	liver:	n/a	chr4:9693587-9693602
42	HMGN3	chr4:9692985-9693642	K562	blood:	n/a	n/a
43	ZNF143	chr4:9692964-9693473	H1-hESC	embryonic stem cell:	n/a	chr4:9693403-9693421 chr4:9693094-9693112
44	SP1	chr4:9693113-9693408	GM12878	blood:	n/a	chr4:9693126-9693136 chr4:9693152-9693161 chr4:9693251-9693262 chr4:9693151-9693163 chr4:9693163-9693175 chr4:9693307-9693318 chr4:9693164-9693173 chr4:9693126-9693135 chr4:9693151-9693163
45	MAZ	chr4:9693038-9693659	K562	blood:	n/a	n/a
46	POLR2A	chr4:9692918-9693376	HepG2	liver:	n/a	n/a
47	SP1	chr4:9692853-9693834	GM12878	blood:	n/a	chr4:9693094-9693108 chr4:9693126-9693136 chr4:9693504-9693516 chr4:9693598-9693612 chr4:9693586-9693598 chr4:9693095-9693104 chr4:9693152-9693161 chr4:9693597-9693609 chr4:9693094-9693103 chr4:9693586-9693598 chr4:9693251-9693262 chr4:9693403-9693417 chr4:9693505-9693514 chr4:9693151-9693163 chr4:9693163-9693175 chr4:9693307-9693318 chr4:9693164-9693173 chr4:9693587-9693596 chr4:9693588-9693597 chr4:9693402-9693414 chr4:9693504-9693516 chr4:9693598-9693607 chr4:9693093-9693105 chr4:9693126-9693135 chr4:9693587-9693596 chr4:9693093-9693105 chr4:9693151-9693163 chr4:9693599-9693608 chr4:9693597-9693609
48	TAF1	chr4:9692820-9693448	H1-hESC	embryonic stem cell:	n/a	n/a
49	HEY1	chr4:9692858-9693409	HepG2	liver:	n/a	n/a
50	POLR2A	chr4:9692652-9693391	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
FAM86MP	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12649073	0.91[EUR][1000 genomes]
rs28390358	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34004016	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6814274	0.92[EUR][1000 genomes]
rs6842656	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1796218	chr4:9324644-9714338	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv428108	chr4:9324644-9764173	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
3	nsv533218	chr4:9371016-10252290	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	74 gene(s)	inside rSNPs	diseases
4	nsv818213	chr4:9371116-9719981	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
5	esv2754610	chr4:9372303-9804524	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
6	nsv530090	chr4:9383695-10165033	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv1012865	chr4:9429299-9794181	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1001143	chr4:9435322-9794181	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1011425	chr4:9436994-9715105	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1002981	chr4:9446035-9698645	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
11	nsv1007204	chr4:9456977-9707068	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1006867	chr4:9456977-9713612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1002757	chr4:9456977-9715105	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1012621	chr4:9456977-9802366	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
15	nsv1012965	chr4:9461218-9696765	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
16	nsv1012634	chr4:9461218-9802366	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
17	nsv998043	chr4:9496282-9830208	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
18	esv10795	chr4:9508396-9745703	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv878667	chr4:9543673-9903121	ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
20	nsv878669	chr4:9551094-9794724	Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
21	nsv469511	chr4:9609987-9754029	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv482424	chr4:9609987-9754029	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	nsv964031	chr4:9629449-9764955	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1000853	chr4:9632436-9696765	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
25	nsv999102	chr4:9633247-9794181	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:9692000-9693800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:9692400-9693200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:9692400-9693400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr4:9692400-9693400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr4:9692400-9693800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr4:9692400-9693800	Active TSS	Brain Anterior Caudate	brain
7	chr4:9692400-9693800	Active TSS	Fetal Brain Female	brain
8	chr4:9692400-9693800	Active TSS	Fetal Kidney	kidney
9	chr4:9692400-9693800	Active TSS	Rectal Smooth Muscle	rectum
10	chr4:9692600-9693200	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr4:9692600-9693200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr4:9692600-9693200	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:9692600-9693200	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr4:9692600-9693200	Flanking Active TSS	Fetal Thymus	thymus
15	chr4:9692600-9693400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr4:9692600-9693400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr4:9692600-9693400	Active TSS	H9 Cell Line	embryonic stem cell
18	chr4:9692600-9693400	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr4:9692600-9693400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:9692600-9693400	Active TSS	Aorta	Aorta
21	chr4:9692600-9693400	Active TSS	Ovary	ovary
22	chr4:9692600-9693400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr4:9692600-9693400	Active TSS	A549	lung
24	chr4:9692600-9693600	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr4:9692600-9693600	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr4:9692600-9693600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:9692600-9693600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:9692600-9693600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr4:9692600-9693600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:9692600-9693600	Active TSS	Brain Substantia Nigra	brain
31	chr4:9692600-9693600	Active TSS	Pancreas	Pancrea
32	chr4:9692600-9693600	Active TSS	Right Ventricle	heart
33	chr4:9692600-9693600	Active TSS	HepG2	liver
34	chr4:9692600-9693600	Active TSS	HSMM	muscle
35	chr4:9692600-9693800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:9692600-9693800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:9692600-9693800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:9692600-9693800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:9692600-9693800	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr4:9692600-9693800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:9692600-9693800	Active TSS	Primary neutrophils fromperipheralblood	blood
42	chr4:9692600-9693800	Active TSS	Primary T cells from cord blood	blood
43	chr4:9692600-9693800	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:9692600-9693800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:9692600-9693800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:9692600-9693800	Active TSS	Brain Angular Gyrus	brain
47	chr4:9692600-9693800	Active TSS	Brain Hippocampus Middle	brain
48	chr4:9692600-9693800	Active TSS	Colon Smooth Muscle	Colon
49	chr4:9692600-9693800	Active TSS	Fetal Lung	lung
50	chr4:9692600-9693800	Active TSS	Left Ventricle	heart

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