Variant report

Variant	rs57291093
Chromosome Location	chr1:94143032-94143033
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	chr1:94142432..94144046-chr1:94146297..94148573,2	K562	blood:
2	chr1:94136961..94138617-chr1:94142462..94144751,2	K562	blood:

Variant related genes	Relation type
ENSG00000137936	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]
rs55670441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];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]
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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94127400-94143800	Genic enhancers	HMEC	breast
2	chr1:94127400-94144000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:94129200-94144800	Weak transcription	GM12878-XiMat	blood
4	chr1:94131200-94144000	Genic enhancers	Placenta	Placenta
5	chr1:94131600-94143800	Genic enhancers	NHEK	skin
6	chr1:94132800-94144600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:94136000-94144200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:94136000-94144800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:94138200-94145000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:94138400-94144400	Genic enhancers	NHLF	lung
11	chr1:94138600-94145200	Weak transcription	Gastric	stomach
12	chr1:94138600-94145800	Weak transcription	Colonic Mucosa	Colon
13	chr1:94138600-94145800	Weak transcription	Fetal Stomach	stomach
14	chr1:94139000-94145200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:94139200-94144800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:94139200-94145200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:94139200-94146000	Weak transcription	Liver	Liver
18	chr1:94139400-94144200	Weak transcription	Fetal Kidney	kidney
19	chr1:94139600-94143400	Enhancers	Fetal Muscle Leg	muscle
20	chr1:94139600-94145600	Weak transcription	Stomach Mucosa	stomach
21	chr1:94139800-94143400	Enhancers	Left Ventricle	heart
22	chr1:94140000-94143400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:94140200-94146200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:94140400-94143200	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr1:94140400-94145800	Weak transcription	Esophagus	oesophagus
26	chr1:94140600-94143200	Enhancers	Brain Hippocampus Middle	brain
27	chr1:94140600-94144800	Enhancers	NHDF-Ad	bronchial
28	chr1:94140800-94143200	Enhancers	Right Ventricle	heart
29	chr1:94140800-94143400	Enhancers	Right Atrium	heart
30	chr1:94140800-94144400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:94141000-94144200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr1:94141000-94144400	Transcr. at gene 5' and 3'	HSMM	muscle
33	chr1:94141000-94146200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:94141200-94144000	Weak transcription	Fetal Intestine Small	intestine
35	chr1:94141200-94144600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:94141200-94144800	Enhancers	Brain Anterior Caudate	brain
37	chr1:94141200-94146000	Weak transcription	Brain Angular Gyrus	brain
38	chr1:94141400-94143800	Weak transcription	Fetal Intestine Large	intestine
39	chr1:94141400-94145800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:94141400-94146200	Weak transcription	Aorta	Aorta
41	chr1:94141600-94143200	Enhancers	Fetal Thymus	thymus
42	chr1:94141600-94143400	Genic enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:94141600-94143400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:94141600-94143400	Enhancers	Psoas Muscle	Psoas
45	chr1:94141600-94144000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
46	chr1:94141600-94145000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:94141800-94143400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr1:94141800-94145200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:94141800-94145600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:94142000-94143400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell

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