Variant report

Variant	rs12119893
Chromosome Location	chr1:10483167-10483168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10474196..10477325-chr1:10477463..10484153,8	K562	blood:
2	chr1:10456065..10459752-chr1:10480399..10483247,3	K562	blood:
3	chr1:10417330..10419820-chr1:10480235..10483214,2	K562	blood:
4	chr1:10474880..10479716-chr1:10481883..10486910,5	K562	blood:

Variant related genes	Relation type
ENSG00000142657	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11804179	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv2764192	chr1:10383734-10594186	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1003498	chr1:10445928-10607351	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv998731	chr1:10464176-10607351	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv1827009	chr1:10467074-10483456	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv1830329	chr1:10467074-10483456	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	esv1831760	chr1:10467074-10483456	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	esv1836264	chr1:10473200-10483456	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3319265	chr1:10480465-10485563	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	esv1848589	chr1:10481373-10484818	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
14	nsv8324	chr1:10481597-10484645	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
15	esv3494866	chr1:10481765-10484813	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3319263	chr1:10481890-10484738	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3319260	chr1:10482098-10484075	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv511676	chr1:10482243-10483797	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv7749	chr1:10482248-10484003	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	nsv827808	chr1:10482342-10483642	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv3494869	chr1:10482383-10483903	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3494865	chr1:10482384-10483922	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3494868	chr1:10482387-10483879	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3319266	chr1:10482406-10483863	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	esv3494867	chr1:10482417-10483842	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	esv3319259	chr1:10482420-10483873	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv3494870	chr1:10482426-10483833	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	esv3319264	chr1:10482428-10483813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	esv3319261	chr1:10482430-10483840	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	esv3677	chr1:10482452-10483948	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv160262	chr1:10482481-10483779	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	esv3319267	chr1:10482481-10483802	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	esv3494871	chr1:10482481-10483802	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	esv14503	chr1:10482550-10483507	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv545386	chr1:10482583-10483167	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv545387	chr1:10482583-10483456	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv545388	chr1:10482634-10483167	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv545389	chr1:10482634-10483456	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
39	nsv827919	chr1:10482671-10483642	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
40	nsv545390	chr1:10482737-10483167	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
41	nsv545391	chr1:10482737-10483456	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
42	nsv545392	chr1:10482839-10483456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
43	nsv545393	chr1:10483001-10483456	Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
44	nsv545394	chr1:10483161-10483456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12119893	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10460000-10490200	Weak transcription	Psoas Muscle	Psoas
2	chr1:10460800-10483400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:10461200-10490000	Weak transcription	Right Atrium	heart
4	chr1:10461400-10483400	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:10462200-10483200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:10462800-10483400	Strong transcription	Fetal Brain Female	brain
7	chr1:10468800-10489800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr1:10472000-10490000	Weak transcription	Stomach Mucosa	stomach
9	chr1:10473600-10488000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:10474200-10488000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:10475600-10489600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:10475800-10490000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:10476600-10483600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr1:10476800-10484800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr1:10477800-10490000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:10477800-10490000	Weak transcription	Fetal Heart	heart
17	chr1:10478200-10488000	Weak transcription	Fetal Kidney	kidney
18	chr1:10478200-10490000	Weak transcription	Fetal Brain Male	brain
19	chr1:10478400-10488000	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:10479800-10484000	Weak transcription	NHDF-Ad	bronchial
21	chr1:10479800-10490200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:10480200-10484400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:10480200-10490000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:10480200-10490000	Weak transcription	Pancreas	Pancrea
25	chr1:10480200-10490400	Weak transcription	Aorta	Aorta
26	chr1:10480400-10489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:10480400-10489800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:10480400-10490000	Weak transcription	Colonic Mucosa	Colon
29	chr1:10480400-10490000	Weak transcription	Small Intestine	intestine
30	chr1:10480400-10490000	Weak transcription	NH-A	brain
31	chr1:10480600-10488000	Weak transcription	Brain Substantia Nigra	brain
32	chr1:10480600-10489600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr1:10480600-10489800	Weak transcription	Hela-S3	cervix
34	chr1:10480800-10483800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:10480800-10484200	Weak transcription	Brain Angular Gyrus	brain
36	chr1:10480800-10485600	Weak transcription	HepG2	liver
37	chr1:10480800-10486400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:10480800-10487800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:10480800-10488000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:10480800-10488000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:10480800-10488000	Weak transcription	K562	blood
42	chr1:10480800-10489200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:10480800-10489600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:10480800-10489600	Weak transcription	HUVEC	blood vessel
45	chr1:10480800-10490000	Weak transcription	Placenta	Placenta
46	chr1:10480800-10490200	Weak transcription	Left Ventricle	heart
47	chr1:10481000-10483600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:10481000-10488000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr1:10481000-10489600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr1:10481000-10489600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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