Variant report

Variant	rs73124830
Chromosome Location	chr1:222812243-222812244
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222809458..222812723-chr1:222815888..222818571,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs73124819	1.00[AFR][1000 genomes]
rs73124833	0.93[AFR][1000 genomes]
rs73124835	0.93[AFR][1000 genomes]
rs73124836	1.00[AFR][1000 genomes]
rs73124838	1.00[AFR][1000 genomes]
rs73124844	1.00[AFR][1000 genomes]
rs73124845	1.00[AFR][1000 genomes]
rs73124852	0.93[AFR][1000 genomes]
rs73124859	1.00[AFR][1000 genomes]
rs73124860	1.00[AFR][1000 genomes]
rs73126809	0.81[AFR][1000 genomes]
rs73126827	0.87[AFR][1000 genomes]
rs73126831	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:222793200-222816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:222793200-222816600	Weak transcription	Hela-S3	cervix
6	chr1:222793600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:222794600-222813400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:222794600-222813600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:222794600-222814000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:222794600-222815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:222794800-222813200	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:222794800-222813600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr1:222795400-222813400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:222797000-222812400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr1:222799600-222815000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:222801000-222816600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:222801200-222815200	Strong transcription	HSMM	muscle
18	chr1:222801400-222816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:222801600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:222801800-222815000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:222802000-222813800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:222802200-222816800	Weak transcription	Stomach Mucosa	stomach
23	chr1:222802400-222816600	Weak transcription	HMEC	breast
24	chr1:222802600-222816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:222802800-222816600	Weak transcription	GM12878-XiMat	blood
26	chr1:222803000-222816800	Weak transcription	Colonic Mucosa	Colon
27	chr1:222803200-222816400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:222803200-222816600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:222803800-222812800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:222803800-222816600	Weak transcription	NHLF	lung
31	chr1:222804400-222817000	Weak transcription	Fetal Brain Male	brain
32	chr1:222805600-222814200	Weak transcription	HSMMtube	muscle
33	chr1:222805800-222816600	Weak transcription	Fetal Heart	heart
34	chr1:222805800-222817000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:222806400-222816600	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:222806400-222816600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:222806400-222816600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:222806600-222816600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:222806600-222816600	Weak transcription	HUVEC	blood vessel
40	chr1:222806800-222816600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:222807000-222816400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr1:222807000-222816600	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:222807000-222816600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:222807000-222816800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr1:222807000-222816800	Weak transcription	Right Ventricle	heart
46	chr1:222807200-222814600	Weak transcription	Fetal Brain Female	brain
47	chr1:222807200-222816600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr1:222807200-222816600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:222807200-222816600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr1:222807200-222816800	Weak transcription	Brain Germinal Matrix	brain

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