Variant report

Variant	rs57040664
Chromosome Location	chr4:103240565-103240566
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103239128..103241511-chr4:103244052..103246907,2	MCF-7	breast:
2	chr4:103239311..103241337-chr4:103423190..103425139,2	MCF-7	breast:
3	chr4:103238583..103241171-chr4:103242151..103243878,2	MCF-7	breast:
4	chr4:103239724..103242583-chr4:103255498..103257630,2	K562	blood:

Variant related genes	Relation type
ENSG00000109320	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs28481751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57016073	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57614926	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58142893	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58282159	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58546232	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61373170	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6815747	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72924893	1.00[EUR][1000 genomes]
rs72926296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926707	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926713	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926715	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72926725	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926726	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926732	1.00[EUR][1000 genomes]
rs72926740	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72926745	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928303	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928311	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928321	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928331	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928338	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928340	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928341	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7660242	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv428447	chr4:103103730-103262107	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3372511	chr4:103240354-103243302	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:103196200-103242400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:103210400-103256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:103214800-103243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:103218000-103242800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:103218600-103245800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr4:103219200-103242600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr4:103221400-103242600	Weak transcription	K562	blood
9	chr4:103224000-103263600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr4:103228000-103242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:103228200-103242800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:103228600-103242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:103229800-103240600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:103230000-103242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:103230000-103245800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr4:103231400-103240600	Weak transcription	Pancreas	Pancrea
17	chr4:103232600-103242400	Weak transcription	Dnd41	blood
18	chr4:103232600-103249400	Weak transcription	Hela-S3	cervix
19	chr4:103233800-103241000	Weak transcription	Fetal Stomach	stomach
20	chr4:103234800-103242600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr4:103235800-103240600	Weak transcription	Lung	lung
22	chr4:103236000-103242800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:103236200-103242600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:103237400-103264000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:103237600-103240800	Weak transcription	Liver	Liver
26	chr4:103238200-103241000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr4:103238800-103242800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:103239000-103242800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:103239000-103256800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr4:103239400-103241200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr4:103239600-103240600	Weak transcription	Fetal Kidney	kidney
32	chr4:103239600-103241200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr4:103239800-103240600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:103239800-103240600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr4:103239800-103240600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr4:103239800-103240600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr4:103239800-103240600	Enhancers	Colonic Mucosa	Colon
38	chr4:103239800-103241000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:103239800-103241000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:103239800-103241000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr4:103239800-103241200	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr4:103239800-103241200	Enhancers	Right Atrium	heart
43	chr4:103240000-103240600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:103240000-103241000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:103240000-103241000	Enhancers	Fetal Lung	lung
46	chr4:103240200-103240600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr4:103240200-103240600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr4:103240200-103240800	Enhancers	Placenta	Placenta
49	chr4:103240400-103240600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr4:103240400-103240600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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