Variant report

Variant	rs16846413
Chromosome Location	chr1:226904700-226904701
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	chr1:226896184..226899571-chr1:226902737..226905068,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16846351	1.00[AFR][1000 genomes]
rs16846357	1.00[AFR][1000 genomes]
rs16846409	0.95[AMR][1000 genomes]
rs16846452	1.00[AFR][1000 genomes]
rs16846458	1.00[AFR][1000 genomes]
rs16846461	1.00[AFR][1000 genomes]
rs16846464	1.00[AFR][1000 genomes]
rs16846466	1.00[AFR][1000 genomes]
rs3754409	0.95[AMR][1000 genomes]
rs3754413	1.00[AFR][1000 genomes]
rs3768400	1.00[AFR][1000 genomes]
rs3768416	1.00[AFR][1000 genomes]
rs4653463	0.86[AMR][1000 genomes]
rs4653464	1.00[AFR][1000 genomes]
rs4653763	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs4653765	0.86[AMR][1000 genomes]
rs56095953	1.00[AFR][1000 genomes]
rs59173465	1.00[AFR][1000 genomes]
rs60932168	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
3	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:226896200-226909800	Weak transcription	Fetal Intestine Large	intestine
5	chr1:226896600-226910600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:226897000-226910200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:226897200-226905000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:226897400-226905000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:226897600-226905400	Weak transcription	NHLF	lung
10	chr1:226899200-226904800	Weak transcription	Stomach Mucosa	stomach
11	chr1:226899200-226911000	Weak transcription	Fetal Lung	lung
12	chr1:226899400-226910000	Weak transcription	Gastric	stomach
13	chr1:226899600-226911800	Weak transcription	Small Intestine	intestine
14	chr1:226900600-226910200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:226900800-226907000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:226900800-226907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:226900800-226907400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:226900800-226907800	Weak transcription	Pancreas	Pancrea
19	chr1:226900800-226909000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:226900800-226909600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:226900800-226910000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:226900800-226911000	Weak transcription	HUVEC	blood vessel
23	chr1:226901200-226905000	Weak transcription	Left Ventricle	heart
24	chr1:226901200-226905200	Weak transcription	Lung	lung
25	chr1:226901200-226910800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:226901400-226907400	Weak transcription	Esophagus	oesophagus
27	chr1:226901600-226905200	Genic enhancers	Primary T cells from cord blood	blood
28	chr1:226901600-226907000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:226901600-226907200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr1:226901800-226907400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr1:226901800-226910200	Weak transcription	Placenta	Placenta
32	chr1:226902000-226904800	Weak transcription	Right Atrium	heart
33	chr1:226902000-226907600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:226902000-226909800	Weak transcription	Fetal Kidney	kidney
35	chr1:226902200-226904800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:226902200-226905200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:226902400-226904800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:226902400-226904800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:226902400-226905000	Weak transcription	Fetal Intestine Small	intestine
40	chr1:226902400-226907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:226902400-226907000	Weak transcription	Dnd41	blood
42	chr1:226902400-226907400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:226902400-226907600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr1:226902400-226907800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr1:226902600-226905000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr1:226902600-226905000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr1:226902600-226905000	Weak transcription	Spleen	Spleen
48	chr1:226902600-226905400	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:226902600-226905400	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr1:226902600-226905400	Weak transcription	Right Ventricle	heart

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