Variant report

Variant	rs73595522
Chromosome Location	chr12:2024656-2024657
allele	C/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	POLR2A	chr12:2024578-2028301	PBDE	blood:	n/a	n/a
2	POLR2A	chr12:2024577-2025254	HL-60	blood:	n/a	n/a
3	CTCF	chr12:2024560-2024710	HepG2	liver:	n/a	chr12:2024697-2024710
4	GATA1	chr12:2024407-2027453	PBDE	blood:	n/a	chr12:2027030-2027047 chr12:2025766-2025775 chr12:2027003-2027013 chr12:2024757-2024767 chr12:2024984-2024992
5	CTCF	chr12:2024540-2024690	NB4	blood:	n/a	n/a
6	MYC	chr12:2024507-2025393	NB4	blood:	n/a	chr12:2025048-2025058 chr12:2025291-2025299
7	MAX	chr12:2024560-2025560	NB4	blood:	n/a	chr12:2025048-2025058 chr12:2025291-2025299
8	RAD21	chr12:2024569-2024787	HepG2	liver:	n/a	chr12:2024639-2024652
9	RAD21	chr12:2024485-2024902	H1-hESC	embryonic stem cell:	n/a	chr12:2024639-2024652
10	POLR2A	chr12:2024453-2025355	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:2024067..2025743-chr12:2043687..2046563,2	MCF-7	breast:
2	chr12:2023041..2025540-chr12:2026529..2030092,4	K562	blood:

Variant related genes	Relation type
ENSG00000256706	TF binding region
CACNA2D4	TF binding region
ENSG00000151062	Chromatin interaction
ENSG00000256706	Chromatin interaction
ENSG00000235049	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs57768805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73595529	1.00[AFR][1000 genomes];1.00[AMR][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	nsv948480	chr12:1776217-2284333	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv898598	chr12:1939252-2215448	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1046388	chr12:1964846-2034887	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1043329	chr12:1986238-2034887	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv557000	chr12:2008548-2045640	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv898600	chr12:2020045-2056363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1040370	chr12:2021395-2671017	Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv948400	chr12:2022411-2601363	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:2020400-2027000	Enhancers	Fetal Thymus	thymus
2	chr12:2020400-2027400	Enhancers	Fetal Muscle Leg	muscle
3	chr12:2020600-2026000	Enhancers	Fetal Muscle Trunk	muscle
4	chr12:2021800-2027400	Weak transcription	Psoas Muscle	Psoas
5	chr12:2022400-2026200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:2022400-2027000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:2022400-2027600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:2022600-2028800	Enhancers	Fetal Heart	heart
9	chr12:2023200-2025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:2023800-2024800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:2024000-2026200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:2024000-2029000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:2024200-2025000	Enhancers	K562	blood
14	chr12:2024200-2026400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:2024200-2026400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:2024200-2026400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr12:2024200-2026800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:2024200-2026800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:2024200-2026800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:2024200-2027200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr12:2024400-2025000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:2024400-2026000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:2024400-2026400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:2024400-2026800	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:2024400-2027000	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:2024400-2027200	Enhancers	Primary T cells from cord blood	blood
27	chr12:2024400-2027200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr12:2024400-2027800	Enhancers	Spleen	Spleen
29	chr12:2024600-2025000	Flanking Active TSS	Thymus	Thymus
30	chr12:2024600-2025200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:2024600-2025400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr12:2024600-2025800	Flanking Active TSS	Dnd41	blood
33	chr12:2024600-2026000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:2024600-2026600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:2024600-2026800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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