Variant report

Variant	rs57646605
Chromosome Location	chr1:226896237-226896238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226891869..226893550-chr1:226895150..226896872,2	K562	blood:
2	chr1:226896184..226899571-chr1:226902737..226905068,3	K562	blood:
3	chr1:226889377..226893057-chr1:226895503..226902234,11	MCF-7	breast:
4	chr1:226889403..226893513-chr1:226896039..226901883,9	MCF-7	breast:
5	chr1:226880308..226883489-chr1:226893060..226896461,3	K562	blood:
6	chr1:226844931..226846433-chr1:226894353..226896487,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12076039	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4653463	0.85[AFR][1000 genomes]
rs4653765	0.85[AFR][1000 genomes]
rs58304151	1.00[AMR][1000 genomes]
rs60166938	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60541195	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6662364	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100921	1.00[AMR][1000 genomes]
rs73100928	1.00[AMR][1000 genomes]
rs9651015	0.91[AFR][1000 genomes];1.00[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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226891600-226896600	Weak transcription	Lung	lung
2	chr1:226891600-226898200	Weak transcription	Gastric	stomach
3	chr1:226891600-226899000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:226891600-226900600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:226891600-226900600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:226891600-226910200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:226891800-226896600	Weak transcription	Fetal Heart	heart
8	chr1:226891800-226897000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:226891800-226898600	Weak transcription	Colonic Mucosa	Colon
10	chr1:226891800-226899000	Weak transcription	Ovary	ovary
11	chr1:226891800-226901400	Weak transcription	Fetal Kidney	kidney
12	chr1:226891800-226903000	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:226891800-226924800	Weak transcription	Aorta	Aorta
14	chr1:226892000-226897000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:226892000-226898000	Genic enhancers	Primary T cells from cord blood	blood
16	chr1:226892000-226898600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:226892200-226896400	Weak transcription	Adipose Nuclei	Adipose
18	chr1:226892200-226896800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:226892600-226897000	Weak transcription	Fetal Lung	lung
20	chr1:226893200-226897000	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr1:226893400-226896400	Strong transcription	Primary B cells from cord blood	blood
22	chr1:226893400-226897800	Strong transcription	GM12878-XiMat	blood
23	chr1:226893400-226918800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:226894200-226896600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr1:226894200-226899200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:226894400-226897600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:226894400-226902000	Enhancers	Brain Angular Gyrus	brain
28	chr1:226894600-226898600	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:226894800-226896400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:226894800-226897400	Weak transcription	Right Ventricle	heart
31	chr1:226894800-226902400	Weak transcription	Psoas Muscle	Psoas
32	chr1:226895200-226896400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr1:226895200-226896400	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr1:226895200-226898200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:226895400-226896600	Enhancers	Fetal Intestine Small	intestine
36	chr1:226895400-226897400	Enhancers	Brain Substantia Nigra	brain
37	chr1:226895400-226897400	Enhancers	NHDF-Ad	bronchial
38	chr1:226895400-226897600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr1:226895400-226899200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:226895400-226899400	Enhancers	HMEC	breast
41	chr1:226895400-226900200	Strong transcription	Dnd41	blood
42	chr1:226895400-226900800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:226895400-226900800	Enhancers	Duodenum Mucosa	Duodenum
44	chr1:226895400-226901000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:226895600-226897400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:226895600-226897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:226895600-226897600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:226895600-226899200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:226895600-226901600	Enhancers	Colon Smooth Muscle	Colon
50	chr1:226895800-226896800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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