Variant report

Variant	rs12141192
Chromosome Location	chr1:10431132-10431133
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10429321..10433968-chr1:10435365..10440945,9	K562	blood:
2	chr1:10428901..10433692-chr1:10435173..10439576,7	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10864454	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11121542	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121548	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11121556	1.00[CHB][hapmap]
rs12119075	1.00[CHB][hapmap]
rs12120465	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12120499	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.96[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135219	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12137527	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142043	0.92[EUR][1000 genomes]
rs17396340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17397129	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17400878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17401588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3762289	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4240912	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4240913	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4846204	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846214	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846215	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846217	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[LWK][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58036267	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61383940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6541092	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6670157	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6679596	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[LWK][hapmap];0.94[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6693965	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6694081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6702280	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525661	0.92[EUR][1000 genomes]
rs997482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[MKK][hapmap];0.96[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12141192	KIF1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10380400-10436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:10381000-10436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:10385200-10436400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:10386000-10434800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:10393200-10431200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:10394200-10441800	Strong transcription	Liver	Liver
8	chr1:10397800-10434800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:10398000-10438000	Weak transcription	GM12878-XiMat	blood
10	chr1:10400200-10438200	Weak transcription	Stomach Mucosa	stomach
11	chr1:10400600-10434600	Weak transcription	K562	blood
12	chr1:10400600-10446400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:10400600-10447400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:10402600-10437200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:10404400-10433800	Weak transcription	Dnd41	blood
16	chr1:10409800-10447400	Weak transcription	Small Intestine	intestine
17	chr1:10411600-10431200	Weak transcription	HUVEC	blood vessel
18	chr1:10418400-10445600	Strong transcription	Fetal Brain Female	brain
19	chr1:10419200-10437800	Weak transcription	Right Atrium	heart
20	chr1:10419200-10442800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:10419800-10441200	Strong transcription	Fetal Stomach	stomach
22	chr1:10420000-10440000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:10420200-10432800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:10420200-10445000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:10420200-10446000	Strong transcription	Brain Germinal Matrix	brain
26	chr1:10420800-10437400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:10421000-10440000	Strong transcription	Fetal Intestine Small	intestine
28	chr1:10421000-10440200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr1:10422000-10431200	Weak transcription	HMEC	breast
30	chr1:10422200-10431400	Weak transcription	Primary B cells from cord blood	blood
31	chr1:10422400-10447200	Weak transcription	Fetal Heart	heart
32	chr1:10422600-10440600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:10424800-10433000	Strong transcription	Brain Hippocampus Middle	brain
34	chr1:10425000-10433000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr1:10425000-10436800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr1:10425000-10438000	Strong transcription	Adipose Nuclei	Adipose
37	chr1:10425000-10438200	Strong transcription	Fetal Muscle Leg	muscle
38	chr1:10425200-10432600	Strong transcription	Brain Substantia Nigra	brain
39	chr1:10425200-10432800	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr1:10425200-10435600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr1:10425200-10437000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:10425200-10437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:10425200-10438000	Strong transcription	Brain Anterior Caudate	brain
44	chr1:10425200-10441600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr1:10425200-10441800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:10425600-10432800	Strong transcription	Lung	lung
47	chr1:10425800-10431200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:10425800-10433800	Weak transcription	NHEK	skin
49	chr1:10425800-10447800	Weak transcription	Psoas Muscle	Psoas
50	chr1:10426000-10431200	Weak transcription	Fetal Brain Male	brain

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