Variant report

Variant	rs3753571
Chromosome Location	chr1:185017607-185017608
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185016945..185018901-chr1:185045228..185047270,2	MCF-7	breast:
2	chr1:185016452..185019529-chr1:185020434..185022223,3	MCF-7	breast:
3	chr1:185010844..185012522-chr1:185016130..185018992,2	MCF-7	breast:
4	chr1:185014501..185017888-chr1:185123055..185126846,5	MCF-7	breast:
5	chr1:185012738..185017820-chr1:185123187..185127311,9	K562	blood:
6	chr1:185016719..185019700-chr1:185022718..185024922,3	MCF-7	breast:
7	chr1:185016066..185017861-chr1:185027232..185029137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121486	Chromatin interaction
ENSG00000116668	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2273878	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753568	1.00[EUR][1000 genomes]
rs3753573	0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820184	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55738529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56691510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185015600-185018800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:185015600-185034200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:185015600-185037000	Weak transcription	Spleen	Spleen
4	chr1:185015600-185037600	Weak transcription	Pancreas	Pancrea
5	chr1:185015800-185018800	Weak transcription	Left Ventricle	heart
6	chr1:185015800-185023400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:185015800-185037600	Weak transcription	Aorta	Aorta
8	chr1:185015800-185043400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:185016000-185025600	Weak transcription	Ovary	ovary
10	chr1:185016000-185026600	Weak transcription	Psoas Muscle	Psoas
11	chr1:185016000-185026600	Weak transcription	Right Atrium	heart
12	chr1:185016000-185034400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:185016200-185018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:185016200-185018000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:185016200-185018000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr1:185016200-185018400	Enhancers	Fetal Brain Male	brain
17	chr1:185016200-185023600	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:185016400-185018000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:185016400-185019200	Enhancers	Fetal Muscle Leg	muscle
20	chr1:185016400-185022600	Weak transcription	Placenta	Placenta
21	chr1:185016400-185030000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:185016400-185057000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:185016400-185067200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:185016400-185073800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:185016600-185017800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:185016600-185018000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:185016600-185018000	Enhancers	Hela-S3	cervix
28	chr1:185016600-185019800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr1:185016600-185020200	Weak transcription	Brain Angular Gyrus	brain
30	chr1:185016600-185020200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:185016600-185022600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr1:185016600-185026600	Weak transcription	Primary B cells from peripheral blood	blood
33	chr1:185016600-185026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:185016600-185026800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:185016600-185057000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:185016800-185018000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:185016800-185018200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:185016800-185018200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:185016800-185019000	Weak transcription	Adipose Nuclei	Adipose
40	chr1:185016800-185020200	Weak transcription	A549	lung
41	chr1:185016800-185028600	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:185017000-185018000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr1:185017000-185019200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:185017000-185019600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:185017000-185020200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:185017200-185017800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr1:185017200-185017800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr1:185017200-185018000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:185017200-185020200	Weak transcription	Brain Germinal Matrix	brain
50	chr1:185017200-185020600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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