Variant report

Variant	rs571194443
Chromosome Location	chr1:179560590-179560591
allele	C/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	MAX	chr1:179560449-179561784	MCF-7	breast:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
2	MAX	chr1:179560515-179561699	H1-hESC	embryonic stem cell:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
3	MAX	chr1:179560468-179561767	H1-hESC	embryonic stem cell:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
4	E2F6	chr1:179560348-179561861	H1-hESC	embryonic stem cell:	n/a	chr1:179560963-179560972 chr1:179561264-179561273 chr1:179561352-179561359
5	NR2F2	chr1:179560573-179561479	MCF-7	breast:	n/a	n/a
6	MAX	chr1:179560583-179561357	A549	lung:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
7	MAX	chr1:179560550-179561080	H1-hESC	embryonic stem cell:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
8	MAX	chr1:179560418-179561505	A549	lung:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
9	MAX	chr1:179560364-179561745	MCF-7	breast:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
10	CREB1	chr1:179560520-179561044	A549	lung:	n/a	n/a
11	CREB1	chr1:179560584-179561320	H1-hESC	embryonic stem cell:	n/a	n/a
12	E2F6	chr1:179560548-179561684	H1-hESC	embryonic stem cell:	n/a	chr1:179560963-179560972 chr1:179561264-179561273 chr1:179561352-179561359
13	MYC	chr1:179560506-179561069	MCF10A-Er-Src	breast:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
14	GATA3	chr1:179560467-179561629	MCF-7	breast:	n/a	n/a
15	POLR2A	chr1:179560492-179561164	MCF10A-Er-Src	breast:	n/a	n/a
16	E2F6	chr1:179560476-179561313	A549	lung:	n/a	chr1:179560963-179560972 chr1:179561264-179561273
17	RCOR1	chr1:179560446-179560672	K562	blood:	n/a	n/a
18	POLR2A	chr1:179560509-179561143	MCF10A-Er-Src	breast:	n/a	n/a
19	CTCF	chr1:179560539-179561629	MCF-7	breast:	n/a	chr1:179561092-179561105
20	TCF12	chr1:179560281-179561504	MCF-7	breast:	n/a	chr1:179561175-179561185
21	ELF1	chr1:179560552-179561672	MCF-7	breast:	n/a	chr1:179561099-179561111 chr1:179561384-179561393
22	HDAC2	chr1:179560417-179561728	MCF-7	breast:	n/a	n/a
23	BACH1	chr1:179560494-179560764	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr1:179560467-179560926	MCF10A-Er-Src	breast:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
25	MYC	chr1:179560546-179561560	H1-hESC	embryonic stem cell:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
26	SIN3AK20	chr1:179560362-179561773	MCF-7	breast:	n/a	n/a
27	MAX	chr1:179560473-179561427	A549	lung:	n/a	chr1:179560899-179560906 chr1:179560897-179560908 chr1:179561299-179561309 chr1:179560898-179560908 chr1:179560898-179560907 chr1:179560897-179560908 chr1:179560898-179560907
28	GABPA	chr1:179560570-179560836	K562	blood:	n/a	n/a
29	GATA3	chr1:179560485-179561672	MCF-7	breast:	n/a	n/a
30	HA-E2F1	chr1:179560448-179561768	MCF-7	breast:	n/a	chr1:179560963-179560972 chr1:179561264-179561273 chr1:179561352-179561359
31	NR2F2	chr1:179560422-179561757	MCF-7	breast:	n/a	n/a
32	RAD21	chr1:179560520-179561667	H1-hESC	embryonic stem cell:	n/a	n/a
33	HDAC2	chr1:179560478-179561330	MCF-7	breast:	n/a	n/a
34	RCOR1	chr1:179560441-179560703	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:179553040..179558877-chr1:179559940..179564416,7	MCF-7	breast:

Variant related genes	Relation type
TDRD5	TF binding region
ENSG00000227141	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424735	chr1:179559954-179562502	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179556000-179560600	Weak transcription	Right Atrium	heart
2	chr1:179558200-179560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:179560400-179560600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr1:179560400-179560600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:179560400-179560600	Bivalent Enhancer	Adipose Nuclei	Adipose
6	chr1:179560400-179560600	Bivalent Enhancer	Brain Germinal Matrix	brain
7	chr1:179560400-179560600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:179560400-179560600	Bivalent Enhancer	Fetal Kidney	kidney
9	chr1:179560400-179560600	Enhancers	Pancreas	Pancrea
10	chr1:179560400-179560600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
11	chr1:179560400-179560800	Enhancers	Stomach Mucosa	stomach
12	chr1:179560400-179561000	Active TSS	Duodenum Mucosa	Duodenum
13	chr1:179560400-179561000	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:179560400-179561400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
15	chr1:179560400-179561400	Bivalent Enhancer	Fetal Brain Male	brain

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