Variant report

Variant	rs4971011
Chromosome Location	chr1:151157765-151157766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151137459..151139941-chr1:151156461..151158445,2	MCF-7	breast:
2	chr1:151156826..151164982-chr1:151165389..151172985,25	MCF-7	breast:
3	chr1:151156708..151158291-chr1:151161100..151162770,3	K562	blood:
4	chr1:151129660..151131300-chr1:151154193..151158073,3	K562	blood:
5	chr1:151157463..151160016-chr1:151227086..151228606,2	MCF-7	breast:
6	chr1:151118988..151121219-chr1:151157638..151159345,2	MCF-7	breast:
7	chr1:151145004..151146737-chr1:151156893..151159872,2	K562	blood:

Variant related genes	Relation type
ENSG00000143398	Chromatin interaction
ENSG00000163156	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000163159	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10788801	0.80[ASN][1000 genomes]
rs6695901	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7521416	0.85[AFR][1000 genomes]
rs7552226	0.85[AFR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151139600-151158600	Strong transcription	Fetal Stomach	stomach
2	chr1:151139600-151158600	Strong transcription	Lung	lung
3	chr1:151139600-151161600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:151139800-151158600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:151139800-151158600	Strong transcription	Fetal Intestine Small	intestine
6	chr1:151139800-151159000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:151139800-151159400	Strong transcription	Fetal Brain Female	brain
8	chr1:151140000-151158600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:151140000-151158600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:151140000-151158600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr1:151140000-151158600	Strong transcription	Fetal Intestine Large	intestine
12	chr1:151140000-151158600	Strong transcription	Fetal Thymus	thymus
13	chr1:151140000-151158600	Strong transcription	Spleen	Spleen
14	chr1:151140000-151158800	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:151140000-151158800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:151140000-151159200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:151140000-151159200	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr1:151140000-151160000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:151140000-151160800	Weak transcription	Stomach Mucosa	stomach
20	chr1:151140600-151158600	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:151140600-151158600	Strong transcription	Thymus	Thymus
22	chr1:151140600-151159800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:151140800-151159000	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr1:151145600-151158400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr1:151145600-151158600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:151145600-151158800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr1:151145800-151158400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:151145800-151158600	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:151145800-151158600	Strong transcription	Stomach Smooth Muscle	stomach
30	chr1:151145800-151158800	Strong transcription	Primary T cells from cord blood	blood
31	chr1:151145800-151158800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:151145800-151158800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:151145800-151159400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:151145800-151159600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:151145800-151160200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:151146000-151158600	Strong transcription	Liver	Liver
37	chr1:151146000-151158800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:151146000-151158800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr1:151146000-151159000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:151146400-151158600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:151146400-151160400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:151146400-151160800	Weak transcription	Fetal Heart	heart
43	chr1:151146600-151158400	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr1:151146600-151158400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:151146600-151158600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:151146600-151158600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:151146600-151158600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:151146600-151158600	Strong transcription	Rectal Smooth Muscle	rectum
49	chr1:151146600-151159600	Strong transcription	Dnd41	blood
50	chr1:151146800-151158200	Strong transcription	Gastric	stomach

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