Variant report

Variant	rs4073292
Chromosome Location	chr1:9671935-9671936
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	chr1:9670688..9673344-chr1:9673474..9675656,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11799995	1.00[EUR][1000 genomes]
rs11800060	1.00[EUR][1000 genomes]
rs4641334	1.00[EUR][1000 genomes]
rs56133747	1.00[EUR][1000 genomes]
rs56674651	1.00[EUR][1000 genomes]
rs74051551	1.00[EUR][1000 genomes]
rs74051552	1.00[EUR][1000 genomes]
rs74051558	1.00[EUR][1000 genomes]
rs74051559	1.00[EUR][1000 genomes]
rs7518144	1.00[EUR][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	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9650400-9676000	Weak transcription	A549	lung
2	chr1:9651400-9672000	Weak transcription	Hela-S3	cervix
3	chr1:9653800-9675400	Weak transcription	Stomach Mucosa	stomach
4	chr1:9653800-9675800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:9654000-9672800	Weak transcription	HSMMtube	muscle
6	chr1:9654000-9673200	Weak transcription	NH-A	brain
7	chr1:9654000-9673800	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:9654000-9675600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:9654400-9675400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:9655400-9674200	Strong transcription	Dnd41	blood
11	chr1:9655600-9674200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:9655600-9674600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:9655800-9674000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:9655800-9674200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:9655800-9674800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:9656000-9674000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:9656400-9674000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:9656800-9674200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:9656800-9674400	Strong transcription	Ovary	ovary
20	chr1:9656800-9674600	Weak transcription	HMEC	breast
21	chr1:9657000-9673600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:9657200-9697600	Weak transcription	Right Atrium	heart
23	chr1:9657400-9672400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:9659800-9674200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:9659800-9674200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:9659800-9674200	Strong transcription	Lung	lung
27	chr1:9659800-9674200	Strong transcription	Spleen	Spleen
28	chr1:9659800-9674400	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:9660200-9674000	Strong transcription	Adipose Nuclei	Adipose
30	chr1:9660200-9674000	Strong transcription	Fetal Intestine Large	intestine
31	chr1:9660200-9674200	Strong transcription	Placenta	Placenta
32	chr1:9660400-9673600	Strong transcription	Gastric	stomach
33	chr1:9660600-9676800	Weak transcription	HSMM	muscle
34	chr1:9662000-9675200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:9662000-9675800	Weak transcription	Primary B cells from cord blood	blood
36	chr1:9662200-9674200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:9662200-9676400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr1:9662600-9672600	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:9663200-9672400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:9663400-9672400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:9664000-9675200	Strong transcription	Fetal Stomach	stomach
42	chr1:9664200-9674800	Strong transcription	Fetal Intestine Small	intestine
43	chr1:9665000-9677400	Weak transcription	Osteobl	bone
44	chr1:9665600-9674200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:9665600-9675400	Strong transcription	Fetal Muscle Leg	muscle
46	chr1:9665800-9674200	Strong transcription	Esophagus	oesophagus
47	chr1:9666400-9674600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:9666800-9673400	Weak transcription	Fetal Brain Male	brain
49	chr1:9667000-9674000	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:9667000-9674800	Strong transcription	Fetal Thymus	thymus

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