Variant report

Variant	rs59211028
Chromosome Location	chr1:10407360-10407361
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	chr1:10402867..10406209-chr1:10406745..10409622,3	K562	blood:
2	chr1:10400783..10405636-chr1:10406745..10410852,7	K562	blood:

Variant related genes	Relation type
ENSG00000054523	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10492970	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17034591	0.90[EUR][1000 genomes]
rs17034601	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17034616	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17034627	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034655	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034660	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034716	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034766	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2297881	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3737154	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3819096	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41258245	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41274480	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4329521	0.85[EUR][1000 genomes]
rs57661717	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs57963032	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61508659	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72864193	0.90[EUR][1000 genomes]
rs72864196	0.90[EUR][1000 genomes]
rs72865916	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72865925	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72865927	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72865941	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72865961	1.00[EUR][1000 genomes]
rs72865963	1.00[EUR][1000 genomes]
rs72865999	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72867415	1.00[AMR][1000 genomes]
rs72867421	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72867431	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72867433	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72867438	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867441	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867455	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867467	0.88[AMR][1000 genomes]
rs72867469	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72867481	0.86[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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:10380400-10436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10380600-10426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:10381000-10436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:10385200-10436400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:10386000-10434800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:10386400-10421600	Weak transcription	Hela-S3	cervix
8	chr1:10386800-10408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:10393200-10415800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:10393200-10431200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:10393600-10430800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:10394200-10409800	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr1:10394200-10410000	Strong transcription	Fetal Brain Female	brain
15	chr1:10394200-10410000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:10394200-10411400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:10394200-10413200	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:10394200-10414200	Strong transcription	Brain Germinal Matrix	brain
19	chr1:10394200-10414200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr1:10394200-10415800	Strong transcription	Adipose Nuclei	Adipose
21	chr1:10394200-10415800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:10394200-10441800	Strong transcription	Liver	Liver
23	chr1:10394400-10409400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:10394400-10410000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr1:10394400-10411200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:10394400-10411400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:10394400-10413400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:10394400-10414200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:10395600-10408400	Weak transcription	Small Intestine	intestine
30	chr1:10395600-10425200	Weak transcription	Thymus	Thymus
31	chr1:10396400-10409400	Strong transcription	HepG2	liver
32	chr1:10397600-10421000	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:10397800-10407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:10397800-10408400	Weak transcription	Fetal Thymus	thymus
35	chr1:10397800-10410600	Weak transcription	Right Ventricle	heart
36	chr1:10397800-10425400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:10397800-10434800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:10398000-10421000	Weak transcription	NHEK	skin
39	chr1:10398000-10438000	Weak transcription	GM12878-XiMat	blood
40	chr1:10398400-10425400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:10399000-10420800	Weak transcription	NHLF	lung
42	chr1:10400000-10410000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:10400000-10416200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:10400200-10407400	Weak transcription	HMEC	breast
45	chr1:10400200-10409400	Strong transcription	HSMM	muscle
46	chr1:10400200-10413600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:10400200-10438200	Weak transcription	Stomach Mucosa	stomach
48	chr1:10400600-10434600	Weak transcription	K562	blood
49	chr1:10400600-10446400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:10400600-10447400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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