Variant report

Variant	rs4388708
Chromosome Location	chr1:10148545-10148546
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17034493	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61760196	0.85[ASN][1000 genomes]
rs72861408	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72861422	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72861457	0.81[ASN][1000 genomes]
rs72861493	0.85[ASN][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10106800-10155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr1:10107400-10165400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:10109400-10158400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:10118200-10163000	Weak transcription	Aorta	Aorta
5	chr1:10119200-10155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:10120000-10156400	Weak transcription	Spleen	Spleen
7	chr1:10120000-10162600	Weak transcription	Gastric	stomach
8	chr1:10120400-10163000	Weak transcription	Fetal Kidney	kidney
9	chr1:10124400-10155200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:10125800-10165400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:10125800-10165400	Weak transcription	Fetal Brain Male	brain
12	chr1:10126000-10154800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:10126000-10161000	Weak transcription	A549	lung
14	chr1:10126400-10162800	Weak transcription	Brain Germinal Matrix	brain
15	chr1:10126400-10163000	Weak transcription	Pancreas	Pancrea
16	chr1:10126400-10165400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:10132200-10156000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:10132400-10155200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:10132400-10155400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:10132400-10163000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:10132600-10162600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:10132600-10165400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:10134600-10166200	Weak transcription	Colonic Mucosa	Colon
24	chr1:10134600-10166600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:10134800-10163000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr1:10135000-10154800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr1:10135000-10160400	Weak transcription	Ovary	ovary
28	chr1:10135200-10155400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:10135200-10155400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:10135200-10164200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:10135200-10165400	Weak transcription	HUVEC	blood vessel
32	chr1:10135600-10149800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:10135600-10155000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:10135600-10162600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:10135800-10155000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:10135800-10155000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:10135800-10161200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:10135800-10164200	Weak transcription	NH-A	brain
39	chr1:10135800-10164200	Weak transcription	NHLF	lung
40	chr1:10136000-10155000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr1:10136200-10155400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:10136200-10164000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:10137600-10165600	Weak transcription	Esophagus	oesophagus
44	chr1:10137800-10153800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:10137800-10161200	Weak transcription	Osteobl	bone
46	chr1:10139000-10150600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr1:10139400-10155000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:10140800-10162800	Weak transcription	Brain Anterior Caudate	brain
49	chr1:10141000-10151800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:10141000-10155000	Weak transcription	Adipose Nuclei	Adipose

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