Variant report

Variant	rs41310905
Chromosome Location	chr1:151131581-151131582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151116489..151120631-chr1:151129808..151132506,3	K562	blood:
2	chr1:150994028..150996978-chr1:151129851..151131997,2	K562	blood:
3	chr1:151128857..151130554-chr1:151130626..151132615,2	MCF-7	breast:
4	chr1:151130719..151134770-chr1:151135722..151138526,6	K562	blood:
5	chr1:151131080..151134028-chr1:151135601..151138206,6	K562	blood:
6	chr1:151117604..151120749-chr1:151128246..151131666,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000200759	Chromatin interaction
ENSG00000163154	Chromatin interaction
ENSG00000163155	Chromatin interaction
ENSG00000143434	Chromatin interaction
ENSG00000163156	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs41266626	0.83[EUR][1000 genomes]
rs41266630	1.00[EUR][1000 genomes]
rs41267548	1.00[EUR][1000 genomes]
rs57330524	1.00[EUR][1000 genomes]
rs74125065	1.00[EUR][1000 genomes]
rs74125077	1.00[EUR][1000 genomes]
rs74125079	1.00[EUR][1000 genomes]
rs74125080	1.00[EUR][1000 genomes]
rs74125087	1.00[EUR][1000 genomes]
rs74125093	1.00[EUR][1000 genomes]
rs74127505	1.00[EUR][1000 genomes]
rs74127529	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	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	chr1:151120200-151132000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:151120200-151132000	Weak transcription	NHDF-Ad	bronchial
3	chr1:151120400-151131600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:151120400-151133200	Weak transcription	Psoas Muscle	Psoas
5	chr1:151120600-151132000	Weak transcription	HSMMtube	muscle
6	chr1:151125000-151132800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151127200-151134600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:151127400-151134800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:151127600-151132800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:151128400-151136800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:151128800-151134400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:151128800-151136800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:151129000-151131800	Weak transcription	Fetal Heart	heart
14	chr1:151129000-151133200	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:151129000-151133400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:151129000-151133400	Weak transcription	HMEC	breast
17	chr1:151129000-151134400	Strong transcription	Brain Germinal Matrix	brain
18	chr1:151129200-151132800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:151129200-151134400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:151129200-151134400	Strong transcription	Fetal Brain Female	brain
21	chr1:151129200-151136800	Weak transcription	Hela-S3	cervix
22	chr1:151129200-151137000	Weak transcription	Stomach Mucosa	stomach
23	chr1:151129400-151132400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:151129400-151133000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:151129400-151134400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:151129400-151134400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:151129400-151134400	Strong transcription	Placenta Amnion	Placenta Amnion
28	chr1:151129400-151134600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:151129400-151134800	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr1:151129600-151132000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr1:151129600-151134000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:151129600-151134400	Strong transcription	Brain Inferior Temporal Lobe	brain
33	chr1:151129600-151134400	Strong transcription	Fetal Intestine Small	intestine
34	chr1:151129600-151134600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:151129600-151134600	Strong transcription	Fetal Intestine Large	intestine
36	chr1:151129600-151134600	Strong transcription	Fetal Stomach	stomach
37	chr1:151129600-151134800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:151129800-151133000	Weak transcription	Small Intestine	intestine
39	chr1:151129800-151134400	Strong transcription	Brain Angular Gyrus	brain
40	chr1:151129800-151134400	Strong transcription	Gastric	stomach
41	chr1:151129800-151134600	Strong transcription	Fetal Lung	lung
42	chr1:151130000-151131600	Weak transcription	HSMM	muscle
43	chr1:151130200-151132400	Weak transcription	Fetal Kidney	kidney
44	chr1:151130200-151133200	Strong transcription	Colon Smooth Muscle	Colon
45	chr1:151130200-151134800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr1:151130200-151134800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:151130200-151134800	Strong transcription	Stomach Smooth Muscle	stomach
48	chr1:151130200-151135200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr1:151130200-151137000	Weak transcription	Right Atrium	heart
50	chr1:151130400-151131800	Strong transcription	Brain Substantia Nigra	brain

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