Variant report

Variant	rs673140
Chromosome Location	chr11:107194965-107194966
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	chr11:107173992..107176253-chr11:107193691..107195884,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2508682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs473551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs524448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs542307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs555032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs557198	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601236	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs607042	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs638504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs639522	0.88[AFR][1000 genomes]
rs665203	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7926690	1.00[AMR][1000 genomes]
rs7933722	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898364	chr11:106944975-107285636	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898365	chr11:106944975-107430300	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv898366	chr11:106944975-107433835	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv898367	chr11:106944975-107443420	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv898369	chr11:106958304-107443420	Strong transcription Weak transcription Flanking Active TSS Enhancers 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	7 gene(s)	inside rSNPs	diseases
6	nsv1035911	chr11:107020991-107198181	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv898370	chr11:107027991-107430300	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv898372	chr11:107049968-107433835	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv898373	chr11:107124903-107433835	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv832261	chr11:107145901-107321562	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv898374	chr11:107156880-107263130	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv556280	chr11:107158740-107231605	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv2756363	chr11:107189790-107376790	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107163800-107199000	Weak transcription	K562	blood
2	chr11:107168800-107201000	Weak transcription	NHEK	skin
3	chr11:107169400-107230000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:107172800-107204200	Weak transcription	NH-A	brain
5	chr11:107173600-107231400	Weak transcription	Brain Angular Gyrus	brain
6	chr11:107175400-107199400	Weak transcription	NHDF-Ad	bronchial
7	chr11:107179200-107229800	Weak transcription	Psoas Muscle	Psoas
8	chr11:107180000-107233200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:107183400-107234400	Weak transcription	HSMMtube	muscle
10	chr11:107189200-107199000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:107189400-107201800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:107189800-107200400	Weak transcription	Fetal Brain Male	brain
13	chr11:107189800-107206200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:107190000-107198800	Weak transcription	NHLF	lung
15	chr11:107190000-107223200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:107190800-107196200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr11:107191200-107195000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr11:107191200-107196400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:107191200-107199400	Strong transcription	Fetal Intestine Large	intestine
20	chr11:107191200-107200800	Strong transcription	Primary B cells from cord blood	blood
21	chr11:107191200-107205800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr11:107191400-107195000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:107191400-107195200	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr11:107191400-107195600	Strong transcription	Stomach Smooth Muscle	stomach
25	chr11:107191400-107197800	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:107191600-107195000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:107191600-107195200	Strong transcription	Fetal Lung	lung
28	chr11:107191600-107195200	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:107191600-107195800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr11:107191600-107199000	Strong transcription	Primary B cells from peripheral blood	blood
31	chr11:107191600-107200400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:107191600-107200800	Strong transcription	Liver	Liver
33	chr11:107191600-107203200	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr11:107191600-107208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr11:107191800-107195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:107191800-107195000	Strong transcription	Colon Smooth Muscle	Colon
37	chr11:107191800-107195200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:107191800-107195200	Strong transcription	Fetal Muscle Trunk	muscle
39	chr11:107191800-107195200	Strong transcription	Left Ventricle	heart
40	chr11:107191800-107199200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:107191800-107201000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:107192000-107195000	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:107192000-107195200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:107192000-107195600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:107192000-107198800	Strong transcription	Dnd41	blood
46	chr11:107192000-107200200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:107192000-107224200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:107192200-107195000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:107192200-107195400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:107192200-107196200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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