Variant report

Variant	rs1837679
Chromosome Location	chr11:76501557-76501558
allele	C/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	chr11:76501244-76501922	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76500135..76502370-chr11:76510962..76513863,2	MCF-7	breast:
2	chr11:76497872..76501557-chr11:76570027..76573455,3	K562	blood:
3	chr11:76499655..76502011-chr11:76503724..76505940,3	K562	blood:

Variant related genes	Relation type
TSKU	TF binding region
ENSG00000261578	Chromatin interaction
ENSG00000078124	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160660	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10160769	0.93[EUR][1000 genomes]
rs10437754	0.93[EUR][1000 genomes]
rs10793194	0.93[EUR][1000 genomes]
rs10793195	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10899278	0.92[EUR][1000 genomes]
rs10899279	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10899280	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10899281	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10899282	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10899283	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11236924	0.94[EUR][1000 genomes]
rs11236936	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12273016	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12282785	0.93[EUR][1000 genomes]
rs12290350	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12788118	0.83[EUR][1000 genomes]
rs1440977	0.93[EUR][1000 genomes]
rs1440978	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1440979	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1440980	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1465900	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1837680	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1866843	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3758711	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4309181	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56228827	0.93[EUR][1000 genomes]
rs7107409	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs737185	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7933092	0.92[EUR][1000 genomes]
rs7942337	0.92[EUR][1000 genomes]
rs7942368	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76495400-76501800	Transcr. at gene 5' and 3'	A549	lung
2	chr11:76496000-76506800	Weak transcription	Aorta	Aorta
3	chr11:76496200-76503600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:76496200-76513800	Weak transcription	Fetal Kidney	kidney
5	chr11:76496400-76501800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:76496400-76504000	Weak transcription	HSMMtube	muscle
7	chr11:76496600-76504400	Weak transcription	HUVEC	blood vessel
8	chr11:76496600-76509800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:76496800-76504200	Weak transcription	HSMM	muscle
10	chr11:76496800-76507400	Enhancers	Stomach Mucosa	stomach
11	chr11:76496800-76510000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:76497400-76502200	Weak transcription	Brain Germinal Matrix	brain
13	chr11:76498000-76503200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr11:76498000-76504000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:76498200-76501600	Genic enhancers	K562	blood
16	chr11:76498200-76501800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:76498200-76502600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:76498400-76505800	Enhancers	Placenta	Placenta
19	chr11:76499000-76501600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:76499000-76510200	Weak transcription	Thymus	Thymus
21	chr11:76499400-76502600	Weak transcription	Osteobl	bone
22	chr11:76499400-76502800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:76499400-76504200	Enhancers	Esophagus	oesophagus
24	chr11:76499600-76501800	Enhancers	Small Intestine	intestine
25	chr11:76499600-76502800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:76499800-76502200	Enhancers	HMEC	breast
27	chr11:76499800-76502600	Weak transcription	NH-A	brain
28	chr11:76499800-76503200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:76499800-76503800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:76499800-76504200	Weak transcription	Fetal Brain Male	brain
31	chr11:76500000-76502600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:76500000-76503000	Weak transcription	NHDF-Ad	bronchial
33	chr11:76500000-76504600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:76500000-76506400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:76500200-76502400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:76500200-76502600	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr11:76500200-76503000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:76500200-76503400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:76500200-76503800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr11:76500200-76504200	Enhancers	HepG2	liver
41	chr11:76500400-76501600	Weak transcription	Fetal Muscle Leg	muscle
42	chr11:76500400-76501600	Genic enhancers	NHEK	skin
43	chr11:76500400-76501800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:76500400-76504000	Enhancers	Adipose Nuclei	Adipose
45	chr11:76500400-76504000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:76500400-76504000	Weak transcription	Gastric	stomach
47	chr11:76500400-76504200	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr11:76500400-76504200	Weak transcription	Fetal Lung	lung
49	chr11:76500400-76505600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:76500400-76509800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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