Variant report

Variant	rs17367018
Chromosome Location	chr1:85100180-85100181
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	GATA3	chr1:85100176-85100901	T-47D	breast:	n/a	n/a
2	TCF7L2	chr1:85100002-85101261	MCF-7	breast:	n/a	chr1:85100804-85100818 chr1:85101208-85101218
3	NR2F2	chr1:85099956-85101008	MCF-7	breast:	n/a	n/a
4	NR2F2	chr1:85100036-85100951	MCF-7	breast:	n/a	n/a
5	GATA3	chr1:85100157-85100817	T-47D	breast:	n/a	n/a
6	SIN3AK20	chr1:85100060-85100977	MCF-7	breast:	n/a	n/a
7	GATA3	chr1:85099944-85101091	MCF-7	breast:	n/a	n/a
8	SIN3AK20	chr1:85099921-85101168	MCF-7	breast:	n/a	n/a
9	FOXM1	chr1:85100179-85101040	MCF-7	breast:	n/a	n/a
10	EP300	chr1:85100161-85100918	MCF-7	breast:	n/a	n/a
11	GATA3	chr1:85099995-85100997	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]
rs11164028	0.99[EUR][1000 genomes]
rs2943674	1.00[CEU][hapmap];0.96[EUR][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:33 , 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	chr1:85098000-85100200	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr1:85098000-85101400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:85098000-85101400	Enhancers	NHEK	skin
8	chr1:85098000-85101600	Enhancers	Placenta	Placenta
9	chr1:85098000-85101600	Enhancers	HMEC	breast
10	chr1:85098200-85100600	Weak transcription	Esophagus	oesophagus
11	chr1:85098400-85101400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:85098400-85101800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:85098600-85100200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:85098800-85100600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:85099000-85100400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:85099000-85100600	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr1:85099000-85109600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:85099000-85115600	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:85099000-85123400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:85099200-85109200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:85099200-85109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:85099200-85115000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:85099200-85121400	Weak transcription	NHDF-Ad	bronchial
24	chr1:85099200-85138200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:85099400-85105600	Weak transcription	K562	blood
26	chr1:85099400-85115000	Weak transcription	Osteobl	bone
27	chr1:85099400-85131200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:85099600-85100600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:85099600-85122600	Weak transcription	Fetal Brain Male	brain
30	chr1:85099800-85100400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:85099800-85101000	Enhancers	Hela-S3	cervix
32	chr1:85100000-85100800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:85100000-85101000	Enhancers	Fetal Kidney	kidney

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