Variant report

Variant	rs16842118
Chromosome Location	chr1:197888670-197888671
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	chr1:197880188..197882077-chr1:197888467..197890885,2	K562	blood:

Variant related genes	Relation type
ENSG00000143355	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16829946	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16842154	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4915134	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4915574	0.86[ASN][1000 genomes]
rs72744974	0.86[ASN][1000 genomes]
rs73067246	0.90[EUR][1000 genomes]
rs73083840	0.90[EUR][1000 genomes]
rs7524910	0.86[ASN][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	nsv999662	chr1:197821769-197892803	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
2	esv2762214	chr1:197821769-197897496	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197884600-197891000	Bivalent Enhancer	Fetal Thymus	thymus
2	chr1:197885000-197889000	Active TSS	Ovary	ovary
3	chr1:197887000-197889400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr1:197887200-197889000	Active TSS	Right Atrium	heart
5	chr1:197887400-197888800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr1:197887400-197890400	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr1:197887400-197890600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
8	chr1:197887400-197890800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:197887600-197888800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:197887600-197888800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr1:197887600-197889000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
12	chr1:197887600-197889000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:197887600-197889000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:197887600-197889000	Bivalent Enhancer	Brain Hippocampus Middle	brain
15	chr1:197887600-197889600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:197887600-197890800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:197887800-197888800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
18	chr1:197887800-197888800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
19	chr1:197887800-197888800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:197887800-197888800	Bivalent Enhancer	Adipose Nuclei	Adipose
21	chr1:197887800-197889000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr1:197887800-197889000	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr1:197887800-197889000	Weak transcription	Gastric	stomach
24	chr1:197887800-197889000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr1:197887800-197889000	Bivalent Enhancer	HUVEC	blood vessel
26	chr1:197887800-197889200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
27	chr1:197887800-197889200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
28	chr1:197887800-197889200	Bivalent Enhancer	Left Ventricle	heart
29	chr1:197887800-197889200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
30	chr1:197887800-197889400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:197887800-197889400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr1:197887800-197889400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
33	chr1:197887800-197890600	Bivalent Enhancer	Brain Germinal Matrix	brain
34	chr1:197887800-197890800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
35	chr1:197888000-197889000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
36	chr1:197888200-197888800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:197888200-197888800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr1:197888200-197888800	Bivalent Enhancer	Fetal Muscle Leg	muscle
39	chr1:197888200-197888800	Weak transcription	Pancreas	Pancrea
40	chr1:197888200-197889000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:197888200-197889000	Bivalent Enhancer	Psoas Muscle	Psoas
42	chr1:197888200-197889400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
43	chr1:197888200-197889400	Bivalent Enhancer	Placenta	Placenta
44	chr1:197888200-197889600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr1:197888200-197890600	Bivalent Enhancer	Liver	Liver
46	chr1:197888400-197888800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
47	chr1:197888400-197888800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:197888400-197888800	Bivalent/Poised TSS	Colonic Mucosa	Colon
49	chr1:197888400-197888800	Weak transcription	Right Ventricle	heart
50	chr1:197888400-197888800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood

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