Variant report

Variant	rs7522444
Chromosome Location	chr1:10216390-10216391
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10136391..10138641-chr1:10216153..10218267,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11806619	0.88[EUR][1000 genomes]
rs12058944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076005	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12078482	0.94[EUR][1000 genomes]
rs12078483	0.94[EUR][1000 genomes]
rs12087114	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034563	0.94[EUR][1000 genomes]
rs55704135	0.92[AFR][1000 genomes]
rs6699249	0.88[EUR][1000 genomes]
rs9782879	1.00[EUR][1000 genomes]
rs9782923	1.00[EUR][1000 genomes]
rs9782938	1.00[EUR][1000 genomes]
rs9782997	1.00[EUR][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	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv527217	chr1:10093457-10257167	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv522629	chr1:10125765-10239197	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10163400-10219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:10164000-10227400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:10182200-10231200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:10182400-10229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:10182800-10221000	Weak transcription	Fetal Brain Male	brain
6	chr1:10182800-10231400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:10184000-10235000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:10191200-10225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:10191200-10239600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
11	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr1:10195400-10219400	Weak transcription	Colonic Mucosa	Colon
13	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
14	chr1:10196800-10218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:10197600-10225000	Weak transcription	NHEK	skin
16	chr1:10197800-10219800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:10197800-10220000	Weak transcription	Stomach Mucosa	stomach
18	chr1:10197800-10220000	Weak transcription	NH-A	brain
19	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
21	chr1:10201600-10231200	Weak transcription	HMEC	breast
22	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
23	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr1:10204400-10218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:10205600-10218400	Weak transcription	Osteobl	bone
26	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:10207200-10219800	Weak transcription	Pancreas	Pancrea
28	chr1:10207200-10224400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:10207400-10220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:10207400-10224800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:10209600-10218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:10211200-10222000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
34	chr1:10211800-10221000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:10212000-10216400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:10212000-10216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:10212000-10217600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:10212000-10218000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:10212000-10218200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:10212000-10218200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:10212000-10218200	Weak transcription	Adipose Nuclei	Adipose
42	chr1:10212000-10218200	Weak transcription	Ovary	ovary
43	chr1:10212000-10218200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:10212000-10218200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:10212000-10219800	Strong transcription	Fetal Intestine Small	intestine
46	chr1:10212000-10220800	Weak transcription	Gastric	stomach
47	chr1:10212000-10221200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:10212000-10222600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:10212000-10224800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr1:10212000-10224800	Weak transcription	Fetal Kidney	kidney

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