Variant report

Variant	rs3124073
Chromosome Location	chr1:246732947-246732948
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	ATF1	chr1:246732872-246733329	K562	blood:	n/a	n/a
2	ARID3A	chr1:246732646-246733496	K562	blood:	n/a	n/a
3	USF2	chr1:246732570-246733252	GM12878	blood:	n/a	n/a
4	FOS	chr1:246732943-246733277	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr1:246732947-246733298	MCF10A-Er-Src	breast:	n/a	chr1:246733277-246733287 chr1:246733277-246733287 chr1:246733277-246733287
6	UBTF	chr1:246732633-246733171	K562	blood:	n/a	n/a
7	EP300	chr1:246732665-246733372	K562	blood:	n/a	n/a
8	MAX	chr1:246732548-246733254	K562	blood:	n/a	chr1:246732728-246732741 chr1:246732730-246732739
9	MAX	chr1:246732938-246733196	GM12878	blood:	n/a	n/a
10	MAX	chr1:246732570-246733273	K562	blood:	n/a	chr1:246732728-246732741 chr1:246732730-246732739
11	POLR2A	chr1:246732835-246733337	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr1:246732745-246733073	MCF10A-Er-Src	breast:	n/a	n/a
13	WRNIP1	chr1:246732758-246733204	GM12878	blood:	n/a	n/a
14	SMC3	chr1:246732917-246732950	GM12878	blood:	n/a	n/a
15	JUN	chr1:246732926-246733304	HUVEC	blood vessel:	n/a	chr1:246733277-246733287 chr1:246733277-246733287 chr1:246733277-246733287
16	TAF1	chr1:246732867-246733106	K562	blood:	n/a	n/a
17	TBP	chr1:246732687-246733225	K562	blood:	n/a	n/a
18	TBP	chr1:246732929-246733590	GM12878	blood:	n/a	n/a
19	CREB1	chr1:246732899-246733400	GM12878	blood:	n/a	n/a
20	MXI1	chr1:246732907-246733252	GM12878	blood:	n/a	n/a
21	FOS	chr1:246732850-246733331	HUVEC	blood vessel:	n/a	chr1:246733277-246733287 chr1:246733277-246733287 chr1:246733277-246733287
22	MYC	chr1:246732618-246733302	K562	blood:	n/a	chr1:246732728-246732741 chr1:246732730-246732739
23	YY1	chr1:246732883-246733141	K562	blood:	n/a	n/a
24	POLR2A	chr1:246732577-246733301	K562	blood:	n/a	n/a
25	MAFK	chr1:246732691-246733249	K562	blood:	n/a	n/a
26	POLR2A	chr1:246732858-246733216	K562	blood:	n/a	n/a
27	USF1	chr1:246732542-246733166	K562	blood:	n/a	n/a
28	JUND	chr1:246732646-246733628	K562	blood:	n/a	chr1:246733277-246733287 chr1:246733277-246733287 chr1:246733277-246733287
29	MAX	chr1:246732905-246733198	K562	blood:	n/a	n/a
30	POLR2A	chr1:246732860-246733366	K562	blood:	n/a	n/a
31	TAF1	chr1:246732843-246733166	K562	blood:	n/a	n/a
32	POLR2A	chr1:246732840-246733164	K562	blood:	n/a	n/a
33	USF1	chr1:246732580-246733004	K562	blood:	n/a	n/a
34	TBL1XR1	chr1:246732712-246733281	K562	blood:	n/a	n/a
35	POLR2A	chr1:246732816-246733266	HUVEC	blood vessel:	n/a	n/a
36	FOXA1	chr1:246732880-246733255	HepG2	liver:	n/a	n/a
37	POLR2A	chr1:246732896-246733211	HUVEC	blood vessel:	n/a	n/a
38	CREB1	chr1:246732861-246733429	GM12878	blood:	n/a	n/a
39	CHD1	chr1:246732720-246733428	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TFB2M	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10802430	1.00[ASN][1000 genomes]
rs3006079	1.00[ASN][1000 genomes]
rs3006080	1.00[ASN][1000 genomes]
rs3007410	1.00[ASN][1000 genomes]
rs3124074	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3129560	1.00[ASN][1000 genomes]
rs34936435	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004119	chr1:245957145-246813150	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv535389	chr1:245957145-246813150	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1014529	chr1:245957145-246817877	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1000654	chr1:245966390-246778182	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv535392	chr1:245966390-246778182	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv868852	chr1:245969229-246811220	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv430402	chr1:246124959-246787448	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv497890	chr1:246143172-246778453	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1005573	chr1:246378676-246740427	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv535405	chr1:246378676-246740427	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	esv2757779	chr1:246407146-246740944	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	esv2759012	chr1:246407146-246740944	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv428346	chr1:246407146-246740944	Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
15	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
16	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	esv2762191	chr1:246546436-246815064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
18	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv1010453	chr1:246645797-246815052	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv998579	chr1:246666041-246817877	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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	19 gene(s)	inside rSNPs	diseases
24	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
25	nsv522963	chr1:246696596-246747586	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv527464	chr1:246698653-246742157	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv873420	chr1:246706139-246755124	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
28	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
29	nsv1014280	chr1:246709243-246823255	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
30	nsv1013264	chr1:246723012-246807400	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
31	nsv535415	chr1:246723012-246807400	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
32	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246730400-246733000	Weak transcription	Spleen	Spleen
2	chr1:246730600-246734400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:246730600-246735000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:246730600-246737600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:246730800-246733000	Weak transcription	Stomach Mucosa	stomach
6	chr1:246730800-246744000	Weak transcription	Ovary	ovary
7	chr1:246731000-246737600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:246731000-246742000	Weak transcription	Fetal Stomach	stomach
9	chr1:246731000-246747000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:246731200-246733000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:246731200-246733000	Weak transcription	Fetal Heart	heart
12	chr1:246731200-246733800	Enhancers	Duodenum Mucosa	Duodenum
13	chr1:246731200-246734000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr1:246731200-246734200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr1:246731200-246734400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:246731200-246734600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr1:246731400-246733000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:246731400-246733200	Weak transcription	A549	lung
19	chr1:246731400-246733200	Enhancers	NHEK	skin
20	chr1:246731400-246733600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:246731400-246734000	Weak transcription	HMEC	breast
22	chr1:246731400-246734800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:246731400-246740600	Weak transcription	HSMMtube	muscle
24	chr1:246731400-246742000	Weak transcription	NH-A	brain
25	chr1:246731400-246746000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:246731400-246746200	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:246731400-246747200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:246731400-246753400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:246731600-246733200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:246731600-246734200	Enhancers	HepG2	liver
31	chr1:246731600-246741600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr1:246731600-246747000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:246731800-246733400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr1:246731800-246733600	Enhancers	Osteobl	bone
35	chr1:246731800-246734400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:246732000-246733800	Enhancers	Left Ventricle	heart
37	chr1:246732000-246734000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:246732000-246746400	Weak transcription	Hela-S3	cervix
39	chr1:246732000-246747600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:246732200-246733200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:246732200-246733600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:246732200-246733600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr1:246732200-246733600	Enhancers	Right Ventricle	heart
44	chr1:246732200-246733800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:246732400-246733400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:246732400-246733400	Weak transcription	Colonic Mucosa	Colon
47	chr1:246732400-246734400	Weak transcription	Psoas Muscle	Psoas
48	chr1:246732600-246733000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:246732600-246733000	Weak transcription	Lung	lung
50	chr1:246732600-246733000	Active TSS	Right Atrium	heart

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