Variant report

Variant	rs11121523
Chromosome Location	chr1:10214442-10214443
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10213127..10215510-chr1:10217591..10219973,2	K562	blood:
2	chr1:10211786..10214627-chr1:10218473..10220829,2	K562	blood:

Variant related genes	Relation type
ENSG00000130939	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6696978	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11121523	KIF1B	cis	Thyroid	GTEx

Chromatin state (count:125 , 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	chr1:10191800-10215600	Weak transcription	Psoas Muscle	Psoas
11	chr1:10193200-10231200	Weak transcription	Small Intestine	intestine
12	chr1:10194200-10232200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr1:10195400-10219400	Weak transcription	Colonic Mucosa	Colon
14	chr1:10195600-10231200	Weak transcription	HUVEC	blood vessel
15	chr1:10196800-10218000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:10197600-10214800	Weak transcription	NHDF-Ad	bronchial
17	chr1:10197600-10225000	Weak transcription	NHEK	skin
18	chr1:10197800-10215600	Weak transcription	Right Ventricle	heart
19	chr1:10197800-10219800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:10197800-10220000	Weak transcription	Stomach Mucosa	stomach
21	chr1:10197800-10220000	Weak transcription	NH-A	brain
22	chr1:10197800-10224400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:10197800-10224800	Weak transcription	Esophagus	oesophagus
24	chr1:10201600-10215200	Weak transcription	Aorta	Aorta
25	chr1:10201600-10231200	Weak transcription	HMEC	breast
26	chr1:10203400-10228000	Weak transcription	GM12878-XiMat	blood
27	chr1:10204000-10215000	Weak transcription	NHLF	lung
28	chr1:10204000-10215400	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:10204200-10224800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr1:10204400-10218000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:10205600-10218400	Weak transcription	Osteobl	bone
32	chr1:10205600-10228000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr1:10207200-10215200	Weak transcription	Brain Angular Gyrus	brain
34	chr1:10207200-10219800	Weak transcription	Pancreas	Pancrea
35	chr1:10207200-10224400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:10207400-10220800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:10207400-10224800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:10209600-10218000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:10210000-10215200	Weak transcription	HSMM	muscle
40	chr1:10211200-10222000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:10211200-10236400	Strong transcription	Fetal Stomach	stomach
42	chr1:10211800-10215200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr1:10211800-10221000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:10212000-10215000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:10212000-10215400	Weak transcription	K562	blood
46	chr1:10212000-10215600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:10212000-10216200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:10212000-10216400	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr1:10212000-10216400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:10212000-10217600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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