Variant report

Variant	rs72999069
Chromosome Location	chr1:155672382-155672383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155662296..155664287-chr1:155670196..155672385,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58816734	0.90[AFR][1000 genomes]
rs59938922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667819	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997183	0.90[AFR][1000 genomes]
rs72997201	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999050	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534941	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535114	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv1002390	chr1:155553423-155706930	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv436522	chr1:155559513-155674249	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv3360339	chr1:155562157-155683127	Active TSS Flanking Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv547965	chr1:155563152-155688600	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	esv3381327	chr1:155582853-155718436	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
11	nsv3054	chr1:155653835-155673509	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a
12	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155660200-155698800	Weak transcription	NHLF	lung
2	chr1:155660400-155675000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:155660400-155682800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:155660400-155688800	Weak transcription	Lung	lung
5	chr1:155660400-155706200	Weak transcription	Colonic Mucosa	Colon
6	chr1:155660600-155679000	Weak transcription	Fetal Brain Female	brain
7	chr1:155660600-155680200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:155660800-155682600	Weak transcription	Spleen	Spleen
9	chr1:155661600-155688600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr1:155661600-155707800	Weak transcription	HUVEC	blood vessel
11	chr1:155662200-155682000	Weak transcription	HSMMtube	muscle
12	chr1:155662400-155682800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:155662400-155685600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:155662600-155673800	Weak transcription	HMEC	breast
15	chr1:155663000-155679400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:155663000-155681200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:155663200-155675800	Weak transcription	HSMM	muscle
18	chr1:155663200-155679200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:155663200-155701000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:155663400-155682600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:155664400-155674600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:155664400-155678800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:155664400-155679000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:155665000-155673600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:155665000-155678600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:155665200-155673600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:155665200-155676000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:155665200-155685800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:155665200-155708000	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr1:155665400-155673200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:155665400-155675800	Weak transcription	NHDF-Ad	bronchial
32	chr1:155665400-155678800	Weak transcription	Thymus	Thymus
33	chr1:155665400-155678800	Weak transcription	Dnd41	blood
34	chr1:155665400-155679000	Weak transcription	Primary T cells from cord blood	blood
35	chr1:155665400-155682000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:155665400-155695000	Weak transcription	Pancreas	Pancrea
37	chr1:155665400-155699000	Weak transcription	Right Ventricle	heart
38	chr1:155665600-155707200	Weak transcription	Psoas Muscle	Psoas
39	chr1:155665800-155707000	Weak transcription	Small Intestine	intestine
40	chr1:155666000-155673200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:155666000-155675800	Weak transcription	Hela-S3	cervix
42	chr1:155666200-155677400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:155666200-155677400	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:155666600-155673600	Weak transcription	NHEK	skin
45	chr1:155666600-155679000	Weak transcription	Brain Hippocampus Middle	brain
46	chr1:155666800-155675800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:155666800-155680600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:155666800-155682600	Weak transcription	Brain Substantia Nigra	brain
49	chr1:155667000-155686800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:155667200-155678800	Weak transcription	A549	lung

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