Variant report

Variant	rs74095491
Chromosome Location	chr1:85100490-85100491
allele	G/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	GATA3	chr1:85100176-85100901	T-47D	breast:	n/a	n/a
2	SRF	chr1:85100216-85100970	MCF-7	breast:	n/a	n/a
3	ESR1	chr1:85100447-85100800	T-47D	breast:	n/a	n/a
4	TCF7L2	chr1:85100002-85101261	MCF-7	breast:	n/a	chr1:85100804-85100818 chr1:85101208-85101218
5	NR2F2	chr1:85099956-85101008	MCF-7	breast:	n/a	n/a
6	FOSL2	chr1:85100321-85100839	MCF-7	breast:	n/a	n/a
7	NR2F2	chr1:85100036-85100951	MCF-7	breast:	n/a	n/a
8	MYC	chr1:85100419-85100797	MCF10A-Er-Src	breast:	n/a	n/a
9	CEBPB	chr1:85100236-85100883	MCF-7	breast:	n/a	n/a
10	FOXA1	chr1:85100344-85100729	T-47D	breast:	n/a	n/a
11	GATA3	chr1:85100157-85100817	T-47D	breast:	n/a	n/a
12	EP300	chr1:85100406-85100815	T-47D	breast:	n/a	n/a
13	SIN3AK20	chr1:85100060-85100977	MCF-7	breast:	n/a	n/a
14	ESR1	chr1:85100347-85100799	T-47D	breast:	n/a	n/a
15	STAT3	chr1:85100251-85100791	MCF10A-Er-Src	breast:	n/a	n/a
16	CEBPB	chr1:85100185-85100791	MCF-7	breast:	n/a	n/a
17	HDAC2	chr1:85100186-85100860	MCF-7	breast:	n/a	n/a
18	GATA3	chr1:85100221-85100871	MCF-7	breast:	n/a	n/a
19	FOS	chr1:85100341-85100878	MCF10A-Er-Src	breast:	n/a	chr1:85100858-85100867
20	ZNF217	chr1:85100197-85101075	MCF-7	breast:	n/a	n/a
21	FOS	chr1:85100487-85100748	MCF10A-Er-Src	breast:	n/a	n/a
22	GATA3	chr1:85099944-85101091	MCF-7	breast:	n/a	n/a
23	FOS	chr1:85100315-85100816	MCF10A-Er-Src	breast:	n/a	n/a
24	GATA3	chr1:85100219-85100918	MCF-7	breast:	n/a	n/a
25	SIN3AK20	chr1:85099921-85101168	MCF-7	breast:	n/a	n/a
26	STAT3	chr1:85100314-85100791	MCF10A-Er-Src	breast:	n/a	n/a
27	HDAC2	chr1:85100208-85100991	MCF-7	breast:	n/a	n/a
28	TEAD4	chr1:85100354-85100879	MCF-7	breast:	n/a	n/a
29	FOXM1	chr1:85100179-85101040	MCF-7	breast:	n/a	n/a
30	EP300	chr1:85100161-85100918	MCF-7	breast:	n/a	n/a
31	EP300	chr1:85100372-85100766	T-47D	breast:	n/a	n/a
32	GATA3	chr1:85099995-85100997	MCF-7	breast:	n/a	n/a
33	MAX	chr1:85100286-85100845	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85094796..85097662-chr1:85099991..85101818,2	K562	blood:

Variant related genes	Relation type
C1orf180	TF binding region
ENSG00000180869	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56971773	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6697947	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85087000-85147400	Weak transcription	Gastric	stomach
2	chr1:85096400-85101600	Enhancers	Fetal Intestine Large	intestine
3	chr1:85096400-85101600	Enhancers	Fetal Intestine Small	intestine
4	chr1:85097200-85101200	Enhancers	Duodenum Mucosa	Duodenum
5	chr1:85098000-85101400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:85098000-85101400	Enhancers	NHEK	skin
7	chr1:85098000-85101600	Enhancers	Placenta	Placenta
8	chr1:85098000-85101600	Enhancers	HMEC	breast
9	chr1:85098200-85100600	Weak transcription	Esophagus	oesophagus
10	chr1:85098400-85101400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:85098400-85101800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:85098800-85100600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:85099000-85100600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:85099000-85109600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:85099000-85115600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:85099000-85123400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:85099200-85109200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:85099200-85109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85099200-85115000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85099200-85121400	Weak transcription	NHDF-Ad	bronchial
21	chr1:85099200-85138200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:85099400-85105600	Weak transcription	K562	blood
23	chr1:85099400-85115000	Weak transcription	Osteobl	bone
24	chr1:85099400-85131200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:85099600-85100600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr1:85099600-85122600	Weak transcription	Fetal Brain Male	brain
27	chr1:85099800-85101000	Enhancers	Hela-S3	cervix
28	chr1:85100000-85100800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:85100000-85101000	Enhancers	Fetal Kidney	kidney
30	chr1:85100200-85100800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:85100200-85106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:85100400-85101000	Enhancers	HUES6 Cell Line	embryonic stem cell

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