Variant report

Variant	rs55670441
Chromosome Location	chr1:94146236-94146237
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94146007..94146592-chr1:94279239..94279807,2	MCF-7	breast:
2	chr1:94096921..94097933-chr1:94146005..94146828,3	MCF-7	breast:
3	chr1:94094810..94095721-chr1:94145946..94146885,3	MCF-7	breast:
4	chr1:94144888..94147261-chr1:94311172..94313468,2	K562	blood:
5	chr1:94145898..94148493-chr1:94311257..94313086,3	MCF-7	breast:
6	chr1:94145935..94146771-chr11:66056379..66057009,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000260464	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13373766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17109954	1.00[EUR][1000 genomes]
rs17110016	1.00[EUR][1000 genomes]
rs35555794	1.00[EUR][1000 genomes]
rs55742446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55936005	1.00[AMR][1000 genomes]
rs57291093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58351576	1.00[EUR][1000 genomes]
rs59250599	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032869	1.00[EUR][1000 genomes]
rs60046384	1.00[EUR][1000 genomes]
rs60383814	1.00[EUR][1000 genomes]
rs61215181	1.00[EUR][1000 genomes]
rs6664053	1.00[EUR][1000 genomes]
rs6682265	1.00[EUR][1000 genomes]
rs6687167	1.00[EUR][1000 genomes]
rs6703963	1.00[EUR][1000 genomes]
rs74101588	1.00[EUR][1000 genomes]
rs74101589	1.00[EUR][1000 genomes]
rs74101603	1.00[EUR][1000 genomes]
rs74101657	1.00[AMR][1000 genomes]
rs74101663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74101669	1.00[EUR][1000 genomes]
rs74101670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74104033	1.00[EUR][1000 genomes]
rs7525388	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94143800-94146600	Transcr. at gene 5' and 3'	NHEK	skin
2	chr1:94144400-94146400	Flanking Active TSS	HUVEC	blood vessel
3	chr1:94144400-94148200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:94144600-94148400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr1:94144800-94146400	Flanking Active TSS	NHLF	lung
6	chr1:94144800-94146400	Flanking Active TSS	Osteobl	bone
7	chr1:94145000-94146400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:94145000-94146600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:94145000-94148000	Active TSS	Brain Anterior Caudate	brain
10	chr1:94145200-94146400	Flanking Active TSS	HSMMtube	muscle
11	chr1:94145200-94148000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:94145400-94147600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:94145400-94147800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:94145400-94148400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:94145400-94148400	Active TSS	HSMM	muscle
16	chr1:94145600-94146400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:94145600-94146400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:94145600-94147600	Active TSS	Fetal Kidney	kidney
19	chr1:94145600-94147800	Active TSS	NHDF-Ad	bronchial
20	chr1:94145600-94148000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:94145600-94148200	Active TSS	A549	lung
22	chr1:94145800-94146400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:94145800-94146400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
24	chr1:94145800-94146400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:94145800-94146400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:94145800-94146400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:94145800-94146400	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr1:94145800-94146400	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr1:94145800-94146400	Flanking Active TSS	Rectal Smooth Muscle	rectum
30	chr1:94145800-94146400	Flanking Active TSS	Right Atrium	heart
31	chr1:94145800-94146400	Flanking Active TSS	HepG2	liver
32	chr1:94145800-94146600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr1:94145800-94146800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr1:94145800-94146800	Flanking Active TSS	GM12878-XiMat	blood
35	chr1:94145800-94147000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr1:94145800-94147400	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr1:94145800-94147600	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr1:94145800-94147600	Active TSS	Hela-S3	cervix
39	chr1:94145800-94148000	Active TSS	H9 Cell Line	embryonic stem cell
40	chr1:94145800-94148000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr1:94145800-94148000	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr1:94145800-94148000	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr1:94145800-94148200	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr1:94146000-94146400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:94146000-94146400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr1:94146000-94146400	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr1:94146000-94146400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
48	chr1:94146000-94146400	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
49	chr1:94146000-94146400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:94146000-94146400	Bivalent Enhancer	Fetal Brain Male	brain

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