Variant report

Variant	rs74132053
Chromosome Location	chr1:184796823-184796824
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184796296..184798021-chr1:184942923..184944888,2	K562	blood:
2	chr1:184796575..184799361-chr1:184927581..184929805,2	K562	blood:
3	chr1:184794140..184796874-chr1:184950845..184952866,2	MCF-7	breast:
4	chr1:184796346..184798314-chr1:184799191..184802086,2	K562	blood:

Variant related genes	Relation type
ENSG00000135842	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs567498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs585186	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611814	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs644729	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs654913	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv508677	chr1:184778620-184825302	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr1:184772400-184801800	Weak transcription	Primary T cells from cord blood	blood
3	chr1:184773200-184809400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr1:184783000-184807800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:184783200-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:184783400-184803200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:184785400-184801200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:184786000-184797800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:184786600-184805200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:184787800-184799000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:184788000-184797400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:184789800-184802000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:184790200-184809600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:184791000-184797000	Enhancers	Right Atrium	heart
15	chr1:184792200-184799400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:184792200-184805200	Weak transcription	Fetal Intestine Small	intestine
17	chr1:184792400-184798600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr1:184792800-184805200	Weak transcription	Small Intestine	intestine
19	chr1:184792800-184810000	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:184793000-184799000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:184793000-184805000	Weak transcription	K562	blood
22	chr1:184793000-184809600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:184793000-184813000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:184793400-184797200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr1:184793400-184799000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:184793400-184809200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:184793600-184798200	Enhancers	Colon Smooth Muscle	Colon
28	chr1:184793600-184799400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:184793800-184797800	Enhancers	Fetal Muscle Leg	muscle
30	chr1:184793800-184798400	Enhancers	Rectal Smooth Muscle	rectum
31	chr1:184794200-184797800	Enhancers	Fetal Stomach	stomach
32	chr1:184794200-184798400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:184794400-184806200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:184794800-184797000	Enhancers	Right Ventricle	heart
35	chr1:184794800-184797200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr1:184795000-184797800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:184795200-184799200	Enhancers	Aorta	Aorta
38	chr1:184795400-184798800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr1:184795400-184802400	Weak transcription	Pancreas	Pancrea
40	chr1:184795400-184805800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:184795400-184822600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:184795600-184799000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:184795800-184797200	Weak transcription	GM12878-XiMat	blood
44	chr1:184795800-184797800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:184795800-184798400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:184795800-184805400	Weak transcription	Adipose Nuclei	Adipose
47	chr1:184796000-184797400	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr1:184796200-184797000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:184796200-184797800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:184796400-184797000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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