Variant report

Variant	rs11121543
Chromosome Location	chr1:10404183-10404184
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:10403792-10404794	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:10400297..10401878-chr1:10402520..10404187,2	K562	blood:
2	chr1:10398291..10400779-chr1:10401590..10404208,2	MCF-7	breast:

Variant related genes	Relation type
KIF1B	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11121540	0.88[EUR][1000 genomes]
rs11121566	0.83[YRI][hapmap]
rs12064209	1.00[CEU][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs12069853	1.00[CEU][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs12076005	1.00[CEU][hapmap]
rs12088368	1.00[EUR][1000 genomes]
rs13328720	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4846216	0.94[YRI][hapmap]
rs4846219	0.94[YRI][hapmap]
rs55815752	0.89[EUR][1000 genomes]
rs6703708	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9782879	1.00[CEU][hapmap]
rs9782938	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:10364600-10431000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:10380200-10404800	Weak transcription	Psoas Muscle	Psoas
4	chr1:10380400-10436600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10380600-10426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:10381000-10436400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:10385200-10436400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:10386000-10434800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr1:10386400-10421600	Weak transcription	Hela-S3	cervix
10	chr1:10386800-10408600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:10393200-10415800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr1:10393200-10431200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr1:10393600-10430800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr1:10393800-10406000	Strong transcription	Placenta	Placenta
15	chr1:10393800-10444600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:10394200-10409800	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:10394200-10410000	Strong transcription	Fetal Brain Female	brain
18	chr1:10394200-10410000	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:10394200-10411400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:10394200-10413200	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:10394200-10414200	Strong transcription	Brain Germinal Matrix	brain
22	chr1:10394200-10414200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr1:10394200-10415800	Strong transcription	Adipose Nuclei	Adipose
24	chr1:10394200-10415800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr1:10394200-10441800	Strong transcription	Liver	Liver
26	chr1:10394400-10404400	Strong transcription	Colon Smooth Muscle	Colon
27	chr1:10394400-10407000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:10394400-10409400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:10394400-10410000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr1:10394400-10411200	Strong transcription	Skeletal Muscle Male	skeletal muscle
31	chr1:10394400-10411400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:10394400-10413400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:10394400-10414200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr1:10394600-10405200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:10395600-10408400	Weak transcription	Small Intestine	intestine
36	chr1:10395600-10425200	Weak transcription	Thymus	Thymus
37	chr1:10396400-10409400	Strong transcription	HepG2	liver
38	chr1:10397600-10421000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:10397800-10407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:10397800-10408400	Weak transcription	Fetal Thymus	thymus
41	chr1:10397800-10410600	Weak transcription	Right Ventricle	heart
42	chr1:10397800-10425400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:10397800-10434800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:10398000-10421000	Weak transcription	NHEK	skin
45	chr1:10398000-10438000	Weak transcription	GM12878-XiMat	blood
46	chr1:10398400-10425400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:10399000-10405400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr1:10399000-10420800	Weak transcription	NHLF	lung
49	chr1:10399400-10407000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:10399800-10404600	Strong transcription	Primary T cells fromperipheralblood	blood

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