Variant report

Variant	rs11804061
Chromosome Location	chr1:151230472-151230473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	1:151219411-151234038..1:151592347-151603110	K562	blood:
2	1:151171193-151178589..1:151219411-151234038	GM12878	blood:
3	chr1:151169497..151174843-chr1:151224312..151231181,18	MCF-7	breast:
4	chr1:151230341..151233216-chr1:151253682..151256078,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000206635	Chromatin interaction
ENSG00000143373	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11800088	1.00[AMR][1000 genomes]
rs11800715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804474	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806302	1.00[AMR][1000 genomes]
rs11809569	1.00[AMR][1000 genomes]
rs11809979	1.00[AMR][1000 genomes]
rs11811310	1.00[AMR][1000 genomes]
rs16832965	1.00[AMR][1000 genomes]
rs16832968	1.00[AMR][1000 genomes]
rs16832988	1.00[AMR][1000 genomes]
rs16833008	1.00[AMR][1000 genomes]
rs16833052	1.00[AMR][1000 genomes]
rs16833054	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34570433	1.00[AMR][1000 genomes]
rs41445244	1.00[AMR][1000 genomes]
rs6657146	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151227600-151236200	Weak transcription	Spleen	Spleen
2	chr1:151228000-151234600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:151228000-151236200	Weak transcription	Gastric	stomach
4	chr1:151228200-151231600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:151228200-151234600	Weak transcription	Ovary	ovary
6	chr1:151228200-151236400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151228200-151237000	Weak transcription	Fetal Kidney	kidney
8	chr1:151228400-151230600	Weak transcription	Fetal Stomach	stomach
9	chr1:151228400-151231000	Weak transcription	Placenta	Placenta
10	chr1:151228400-151231200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:151228400-151231400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:151228400-151231800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:151228400-151232800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr1:151228400-151234200	Weak transcription	Fetal Thymus	thymus
15	chr1:151228400-151234400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:151228400-151234400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:151228400-151234400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:151228400-151234400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:151228400-151234400	Weak transcription	Thymus	Thymus
20	chr1:151228400-151234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:151228400-151234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:151228400-151234600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:151228400-151234600	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:151228400-151234600	Weak transcription	Brain Substantia Nigra	brain
25	chr1:151228400-151234600	Weak transcription	Fetal Brain Female	brain
26	chr1:151228400-151234600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr1:151228400-151234600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:151228400-151234600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:151228400-151234800	Weak transcription	Colonic Mucosa	Colon
30	chr1:151228400-151234800	Weak transcription	Fetal Intestine Large	intestine
31	chr1:151228400-151236200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:151228400-151236200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:151228400-151236400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:151228400-151236400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:151228400-151236400	Weak transcription	Aorta	Aorta
36	chr1:151228400-151236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:151228400-151236400	Weak transcription	HSMMtube	muscle
38	chr1:151228400-151236400	Weak transcription	NHDF-Ad	bronchial
39	chr1:151228400-151236600	Weak transcription	Pancreas	Pancrea
40	chr1:151228400-151238200	Weak transcription	Small Intestine	intestine
41	chr1:151228400-151238400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:151228400-151244000	Weak transcription	Right Atrium	heart
43	chr1:151228400-151253400	Weak transcription	Fetal Brain Male	brain
44	chr1:151228600-151230800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr1:151228600-151231000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:151228600-151231000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:151228600-151231200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:151228600-151231200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:151228600-151231200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:151228600-151231200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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