Variant report

Variant	rs74155469
Chromosome Location	chr1:209537517-209537518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209537469-209537519	NB4	blood:	n/a
2	chr1:209537469-209537519	CMK	blood:	n/a
3	chr1:209537469-209537519	GM12892	blood:	n/a
4	chr1:209537469-209537519	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:209537469-209537519	SK-N-MC	brain:	n/a
6	chr1:209537469-209537519	AG09309	skin:	n/a
7	chr1:209537469-209537519	MCF-7	breast:	n/a
8	chr1:209537469-209537519	AG04449	skin:	fetal
9	chr1:209537469-209537519	Hepatocyte	liver:	n/a
10	chr1:209537469-209537519	NHDF-neo	bronchial:	n/a
11	chr1:209537469-209537519	Hela-S3	cervix:	n/a
12	chr1:209537469-209537519	SAEC	small airway:	n/a
13	chr1:209537469-209537519	SKMC	muscle:	n/a
14	chr1:209537469-209537519	ECC-1	luminal epithelium:	n/a
15	chr1:209537469-209537519	T-47D	breast:	n/a
16	chr1:209537469-209537519	HCT-116	colon:	n/a
17	chr1:209537469-209537519	Caco-2	colon:	n/a
18	chr1:209537469-209537519	RPTEC	kidney:	n/a
19	chr1:209537469-209537519	HRPEpiC	eye:	n/a
20	chr1:209537469-209537519	HNPCEpiC	eye:	n/a
21	chr1:209537469-209537519	PFSK-1	brain:	n/a
22	chr1:209537469-209537519	AoSMC	blood vessel:	n/a
23	chr1:209537469-209537519	MCF10A-Er-Src	breast:	n/a
24	chr1:209537469-209537519	K562	blood:	n/a
25	chr1:209537469-209537519	HCM	heart:	n/a
26	chr1:209537469-209537519	HAEpiC	amniotic membrane:	n/a
27	chr1:209537469-209537519	HMEC	breast:	n/a
28	chr1:209537469-209537519	U87	brain:	n/a
29	chr1:209537469-209537519	ProgFib	skin:	n/a
30	chr1:209537469-209537519	SK-N-SH_RA	brain:	n/a
31	chr1:209537469-209537519	PANC-1	pancreas:	n/a
32	chr1:209537469-209537519	AG04450	lung:	fetal
33	chr1:209537469-209537519	HIPEpiC	eye:	n/a
34	chr1:209537469-209537519	SK-N-SH	brain:	n/a
35	chr1:209537469-209537519	HepG2	liver:	n/a
36	chr1:209537469-209537519	HUVEC	blood vessel:	n/a
37	chr1:209537469-209537519	NT2-D1	testis:	n/a
38	chr1:209537469-209537519	HCF	heart:	n/a
39	chr1:209537469-209537519	HRCEpiC	kidney:	n/a
40	chr1:209537469-209537519	HL-60	blood:	n/a
41	chr1:209537469-209537519	GM12878	blood:	n/a
42	chr1:209537469-209537519	HEEpiC	esophagus:	n/a
43	chr1:209537469-209537519	GM12891	blood:	n/a
44	chr1:209537469-209537519	BJ	skin:	n/a
45	chr1:209537469-209537519	NHBE	bronchial:	n/a
46	chr1:209537469-209537519	Jurkat	blood:	n/a
47	chr1:209537469-209537519	H1-hESC	embryonic stem cell:	embryo
48	chr1:209537469-209537519	IMR90	lung:	fetal
49	chr1:209537469-209537519	BE2_C	brain:	n/a
50	chr1:209537469-209537519	NH-A	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209522302..209524591-chr1:209535395..209537824,2	K562	blood:
2	chr1:209532175..209545038-chr1:209598052..209610156,35	MCF-7	breast:
3	chr1:209527807..209529591-chr1:209535703..209538583,2	MCF-7	breast:
4	chr1:209535501..209537810-chr1:209541839..209543791,2	K562	blood:
5	chr1:209532364..209534510-chr1:209535170..209537744,2	K562	blood:
6	chr1:209527253..209544360-chr1:209599669..209610889,45	MCF-7	breast:
7	chr1:209536938..209538765-chr1:209587953..209589952,2	MCF-7	breast:
8	chr1:209532851..209534754-chr1:209537036..209539681,2	MCF-7	breast:
9	chr1:209536970..209539628-chr1:209556097..209557753,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231648	CpG island
ENSG00000230937	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61145527	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209526400-209545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209529800-209547000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209535400-209543800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:209535800-209539000	Enhancers	Fetal Brain Male	brain
5	chr1:209535800-209542200	Enhancers	NHEK	skin
6	chr1:209535800-209550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:209536000-209537600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:209536000-209538200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:209536000-209539400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:209536000-209545200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:209536000-209545600	Enhancers	HMEC	breast
12	chr1:209536200-209537600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:209536200-209538400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:209536400-209538000	Enhancers	Fetal Thymus	thymus
15	chr1:209536600-209537600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:209536600-209537800	Weak transcription	NH-A	brain
17	chr1:209536600-209539200	Enhancers	Fetal Brain Female	brain
18	chr1:209536800-209540000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr1:209536800-209540200	Weak transcription	Esophagus	oesophagus
20	chr1:209536800-209540800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:209536800-209548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:209537000-209537800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:209537000-209538000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:209537000-209540000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:209537200-209537600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:209537200-209538600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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